160 results on '"Bader, I."'
Search Results
2. Outcomes of biological therapy in patients with severe asthma with chronic rhinosinusitis in Saudi Arabia: patients with nasal polyps versus those without nasal polyps
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Usama E. Abuelhassan, Medhat Elnamaky, Abdulaziz Alfifi, Sultan K. Kadasah, Mohammed A. Alshehri, Haneen A. Alasiri, Salihah Y. Al-Mani, Ali S. Kadasah, Abdullah Musleh, Fawwaz A. Alshafa, Muhammad S. S. Qureshi, Abdulmohsen Y. Assiri, Abdulrahman I. Falqi, Bader I. Asiri, Haider M. O. Ahmed, Saleem Alshehri, Fasih U. Rahman, Muhammad Amir Qureshi, Omar Abdelwahab, Sherif Mohamed, Ahmed R. I. Ali, Saad M. A. Alqahtani, and Abdelrahman M. Abdalla
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Outcomes ,Rhinosinusitis ,Nasal polyps ,SNOTT-22 ,Clinical ,Severe asthma ,Diseases of the respiratory system ,RC705-779 - Abstract
Abstract Background This study’s purposes were to evaluate the impact of biological therapies on outcomes in patients with severe asthma (SA) and chronic rhinosinusitis (CRS) and to compare these effects among those with NP (CRSwNP) versus those without NP (CRSsNP) in the “real-world” setting in Saudi Arabian patients. Methods From March to September 2022, a retrospective observational cohort study was undertaken at the severe asthma clinics of the Armed Forces Hospital—Southern Region (AFHSR) and King Khalid University Hospital, Abha, Saudi Arabia, to delineate the effects of dupilumab therapy. Outcomes were assessed, including clinical outcomes, FEV1, and laboratory findings before and one year after dupilumab. Post-therapy effects were compared between CRSwNP and CRSsNP. Results Fifty subjects were enrolled, with a mean age of 46.56. There were 27 (54%) females and 23(46%) males. Significant improvements in clinical parameters (frequency of asthma exacerbations and hospitalizations, the use of OCs, anosmia, SNOTT-22, and the ACT), FEV1, and laboratory ones (serum IgE and eosinophilic count) were observed 6 and 12 months after using dupilumab (p
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- 2024
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3. Chlorinated benzothiadiazines inhibit angiogenesis through suppression of VEGFR2 phosphorylation
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Huwaimel, Bader I., Jonnalagadda, Sravan, Jonnalagadda, Shirisha, Zahra, Fatema T., Nocentini, Alessio, Supuran, Claudiu T., Mikelis, Constantinos M., and Trippier, Paul C.
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- 2022
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4. A Rare Case of Intrapulmonary Mature Teratoma
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Tokashiki, H., primary, Yousuf, H., additional, Banu, M., additional, Ahmed, A., additional, Lenhardt, R., additional, Bader, I., additional, and Bawaadam, H.S., additional
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- 2024
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5. Metastatic Clear Cell Carcinoma of Unknown Primary Origin in an Elderly Female Patient With Paraneoplastic Hypercalcemia
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Al Omour, Bader I, primary, Aiman, Wajeeha, additional, Venkatesvaran, Gopikrishna, additional, Maroules, Michael, additional, and Guron, Gunwant, additional
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- 2024
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6. Caecum actinomycosis with acute abdomen: A case report
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Bader I. Asiri, MBBS, Ali A. Alshehri, MD, Abdullah S. Alqahtani, MD, Abdullah M. Albishi, MD, Yahia I. Assiri, MD, and Esam A. Asmiri, MBBS
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Medicine (General) ,R5-920 - Abstract
الملخص: داء الشعيات البطني، أحد أسباب اضطرابات اللفائفي الأعوري، وعادة ما يتم التفكير فيه عند استبعاد الحالات السريرية الأخرى الأكثر شيوعا. داء الشعيات هو اضطراب جرثومي نادر ينجم عن أنواع الإكتينوميسات. نقدم جنديًا سعوديًا يبلغ من العمر ٣٨ عاما تعرض لألم في الحفرة الحرقفية اليمنى لأربعة أيام. بدأ هذا الألم على شكل طعن تدريجيا. بناء على الفحص السريري للمريض والموجات فوق الصوتية للبطن، تم إجراء عملية استئصال الزائدة الدودية. وأظهر الفحص النسيجي داء الشعيات الزائدي مع تضخم اللمفاوية، واحتقان المصلية والبكتيريا الخيطية في تجويف الزائدة الدودية. تم علاج المريض بالأموكسيسيلين. وأظهرت الأشعة المقطعية مع الصبغة للبطن، وأظهر التصوير بالرنين المغناطيسي ارتفاع سماكة جدار الأعور ٤.٣ × ٢.٩ سم. خضع المريض أخيرا لاستئصال اللفائفي الأعوري بمساعدة التنظير مع مفاغرة اللفائفي القولوني. أظهر التقرير النسيجي مواد غذائية متكلسة في الرتج مع التهاب مزمن دون داء الشعيات التي كان يمكن علاجها والقضاء عليها من خلال العلاج بالمضادات الحيوية السابقة. Abstract: Abdominal actinomycosis, one of the causes of ileocaecal disorders, is usually considered when other more common clinical conditions have been excluded. Actinomycosis is a rare infectious bacterial disorder caused by the Actinomyces species. We present the case of a 38-year male Saudi soldier who presented with pain in the right iliac fossa since 4 days prior to presentation. This stabbing pain started gradually. Based on clinical examination and abdominal ultrasound findings, an appendectomy was performed. Histological examination revealed appendicular actinomycosis with lymphoid hyperplasia, serosa congestion, and filamentous bacteria in the appendicular lumen. The patient was treated with amoxicillin. During follow-up, contrast-enhanced abdominal computed tomography (CT) and magnetic resonance imaging (MRI) revealed a 4.3 × 2.9 cm thickened caecal wall. Thereafter, the patient underwent laparoscope-assisted ileocaecal resection with ileocolic anastomosis. The histological report revealed calcified food material in the diverticulum, with chronic inflammation without actinomycosis, which may have been eradicated by the previous antibiotic treatment. الكلمات المفتاحية: البطن الحاد, وجع بطن, داء الشعيات, استئصال الزائدة الدودية, استئصال اللفائفية, Keywords: Acute abdomen, Abdominal pain, Actinomycosis, Appendectomy, Caecum actinomycosis, Ileocaecal resection
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- 2020
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7. Selective carbonic anhydrase IX and XII inhibitors based around a functionalized coumarin scaffold
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Huwaimel, Bader I., primary, Jonnalagadda, Sravan K., additional, Jonnalagadda, Shirisha, additional, Kumari, Shikha, additional, Nocentini, Alessio, additional, Supuran, Claudiu T., additional, and Trippier, Paul C., additional
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- 2023
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8. Abstract P5-04-04: Does reducing the frequency of regularly scheduled physical examinations affect recurrence detection in patients with early breast cancer?
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Beltran-Bless, Ana-Alicia, primary, Alshamsan, Bader I., additional, Alzahrani, Mashari, additional, Hilton, John, additional, Baines, Kelly-Anne, additional, Samuel, Vicky, additional, Pond, Gregory R., additional, Vandermeer, Lisa, additional, Clemons, Mark, additional, and Larocque, Gail, additional
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- 2023
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9. Increased cerebral blood flow is associated with higher baseline amyloid burden in a cognitively unimpaired population
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Padrela, B. E., Lorenzini, L., Collij, L. E., Tomassen, J., Bader, I., Shekari, M., Berckel, B. N. M., Visser, P. J., Barkhof, F., (0000-0002-3201-6002) Petr, J., Mutsaerts, H.-J., Padrela, B. E., Lorenzini, L., Collij, L. E., Tomassen, J., Bader, I., Shekari, M., Berckel, B. N. M., Visser, P. J., Barkhof, F., (0000-0002-3201-6002) Petr, J., and Mutsaerts, H.-J.
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Background: Decreased cerebral blood flow (CBF) and deterioration of blood-brain barrier (BBB) are suggested to be precursor conditions of cognitive impairment. Using a novel multi-echo-time arterial spin labelling (ASL) protocol, we examined the time of exchange (Tex) of water across the BBB as a measurement of BBB permeability. We further examined the association of cardiovascular risk factors with Tex in an ongoing cohort study. Method: Data (n=29, mean age: 55.9±6.1years, 69% women) were drawn from Neurological biomarkers of Blood, MRI and Cognition (NEURO-BMC) study performed at National University of Singapore. NEURO-BMC is an ongoing prospective cohort study (age: 45-65 years) on brain changes in a subclinical phase of cognitive impairment. A multi-echo, Hadamard-encoded multi-post-labelling-delay pseudo-continuous ASL (PCASL) protocol was used on a 3T scanner. ExploreASL was used with a modified version of FSL FABBER(4) to quantify cerebral blood flow (CBF), arterial transit time (ATT), and Tex. ASL-extracted parameters were compared with cardiovascular risk parameters such as blood pressure (BP), BMI and smoking status. Result: High systolic and diastolic BP were associated with significantly reduced Tex (Fig 1). Additionally, higher systolic and diastolic BP showed a trend of increased ATT and reduced CBF, though the associations were not statistically significant (Table 1). High BMI had a significant association with increased ATT and reduced CBF. However, no trend was observed between BMI and Tex. Participants who ever smoked were observed to have a reduced Tex and CBF and increased ATT, but statistical significance was only found for CBF (Fig 1). Conclusion: In this pilot study, we showed that BBB-ASL-derived parameters - ATT, CBF, and Tex - were associated with BP, BMI, and smoking status. While the sample size for this preliminary analysis was too small to make a definitive conclusion as not all associations were statistically significant, all studied
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- 2023
10. Access to Highly Strained Tricyclic Ketals Derived from Coumarins
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Sravan K. Jonnalagadda, Bader I. Huwaimel, Shirisha Jonnalagadda, Jered C. Garrison, and Paul C. Trippier
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Lactones ,Coumarins ,Organic Chemistry ,Article ,Ethers - Abstract
Synthesis of highly strained fused substituted dihydrobenzopyran cyclopropyl lactones derived from coumarin carboxylates are reported. Substrate scope tolerates a variety of 6- and 8-substituents on the coumarin ring. Substitution at the 5- or 7-position is resistant to tricyclic lactone formation except with 7-methyl substitution. Benzamide-containing coumarins afford the tricyclic ketal. A plausible mechanism is proposed for the formation of the fused lactone; intramolecular rearrangement of trans cyclopropyl methyl ketones with phenolic acetate via the formation of a hemiacetal.
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- 2023
11. Selective carbonic anhydrase IX and XII inhibitors based around a functionalized coumarin scaffold
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Bader I. Huwaimel, Sravan K. Jonnalagadda, Shirisha Jonnalagadda, Shikha Kumari, Alessio Nocentini, Claudiu T. Supuran, and Paul C. Trippier
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Drug Discovery - Published
- 2023
12. Real-World Outcome and Prognostic Factors of Pazopanib in Advanced Soft Tissue Sarcoma
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Tusneem Elhassan, Aisha Alshibany, Jean Paul Atallah, Mahmoud A. Elshenawy, Ahmad Badran, Fatma Maraiki, and Bader I Alshamsan
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Oncology ,medicine.medical_specialty ,Saudi Arabia ,DT/AF ,UPS ,STS ,ASPS ,Pazopanib ,a tyrosine kinase inhibitor ,Interquartile range ,Internal medicine ,Alveolar soft part sarcoma ,pazopanib ,Medicine ,Original Research ,business.industry ,Soft tissue sarcoma ,Common Terminology Criteria for Adverse Events ,medicine.disease ,LMS ,Tolerability ,Response Evaluation Criteria in Solid Tumors ,Cancer Management and Research ,Aggressive fibromatosis ,business ,medicine.drug - Abstract
Bader Alshamsan, 1, 2 Ahmad Badran, 1, 3 Aisha Alshibany, 1 Fatma Maraiki, 1 Mahmoud A Elshenawy, 1, 4 Tusneem Elhassan, 1 Jean Paul Atallah 1 1Medical Oncology, Oncology Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; 2Department of Medicine, College of Medicine, Qassim University, Buraydah, Qassim, Saudi Arabia; 3Clinical Oncology Department, Ain Shams University Hospitals, Ain Shams, Cairo, Egypt; 4Clinical Oncology, Faculty of Medicine – Menoufia University, Shebeen El-Kom, Shibin el Kom, Menoufia Governorate, EgyptCorrespondence: Bader AlshamsanDivision of Medical Oncology, The Ottawa Hospital Cancer Centre, Box 920 General Campus, 501 Smyth Road, Ottawa, Ontario, K1H 8L6, CanadaTel +1 6137377700 Ext. 73467Email bshmsan@qu.edu.saPurpose: Pazopanib has been approved for treating soft tissue sarcomas (STS) after chemotherapy. We aimed to evaluate the prognostic factors, clinical outcomes, and tolerability of pazopanib in patients with STS.Patients and Methods: Forty-five patients treated between June 2015 and August 2019 were reviewed. Clinical outcome was measured by assessing the disease control rate (DCR) using Response Evaluation Criteria in Solid Tumors (version 1.1). Progression-free survival (PFS) and overall survival (OS) were estimated using the Kaplan–Meier method. Adverse effects were assessed using the Common Terminology Criteria for Adverse Events (version 5.0).Results: The median age of patients at diagnosis was 28 (interquartile range (IQR), 23– 45) years. Pazopanib was used as the second-line treatment in 46.7% and the subsequent line in 53.3% of patients. The overall DCR was 55.6%, and at 8 and 12 weeks, it was 52.3% and 35.5%, respectively; the median duration of response was 7 (IQR: 2– 18) months. Pazopanib-induced hypothyroidism was associated with DCR, with an odds ratio of 7 (95% confidence interval [95% CI: 1.7– 27.5], p< 0.01). The median PFS and OS were 4.1 (95% CI: 0.85– 7.42) and 12.4 months (95% CI: 6.5– 18.36), respectively. Hypothyroidism and response to pazopanib, better ECOG PS, histological subtypes desmoid tumor/aggressive fibromatosis (DT/AF), and alveolar soft part sarcoma (ASPS) were favorable prognostic factors for PFS. Hypothyroidism and response to pazopanib were significant favorable factors for OS. There was no statistical difference in the OS between patients using pazopanib as the second-line therapy and those using it as the subsequent-line therapy.Conclusion: Pazopanib is an effective treatment for STS. However, it showed variability in the clinical outcome in favor of ASPS and an outstanding response in the DT/AF subtype. Pazopanib-induced hypothyroidism is a good prognostic factor for disease control and is associated with prolonged PFS and OS.Keywords: STS, a tyrosine kinase inhibitor, pazopanib, DT/AF, UPS, LMS, ASPS, Saudi Arabia
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- 2021
13. Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring
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Nagy, D., Verheyen, S., Wigby, K.M., Borovikov, A., Sharkov, A., Slegesky, V., Larson, A., Fagerberg, C., Brasch-Andersen, C., Kibæk, M., Bader, I., Hernan, R., High, F.A., Chung, W.K., Schieving, J.H., Behunova, J., Smogavec, M., Laccone, F., Witsch-Baumgartner, M., Zobel, J., Duba, H.C., Weis, D., Nagy, D., Verheyen, S., Wigby, K.M., Borovikov, A., Sharkov, A., Slegesky, V., Larson, A., Fagerberg, C., Brasch-Andersen, C., Kibæk, M., Bader, I., Hernan, R., High, F.A., Chung, W.K., Schieving, J.H., Behunova, J., Smogavec, M., Laccone, F., Witsch-Baumgartner, M., Zobel, J., Duba, H.C., and Weis, D.
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Contains fulltext : 248217.pdf (Publisher’s version ) (Open Access), POGZ-related disorders (also known as White-Sutton syndrome) encompass a wide range of neurocognitive abnormalities and other accompanying anomalies. Disease severity varies widely among POGZ patients and studies investigating genotype-phenotype association are scarce. Therefore, our aim was to collect data on previously unreported POGZ patients and perform a large-scale phenotype-genotype comparison from published data. Overall, 117 POGZ patients' genotype and phenotype data were included in the analysis, including 12 novel patients. A severity scoring system was developed for the comparison. Mild and severe phenotypes were compared with the types and location of the variants and the predicted presence or absence of nonsense-mediated RNA decay (NMD). Missense variants were more often associated with mild phenotypes (p = 0.0421) and truncating variants predicted to escape NMD presented with more severe phenotypes (p < 0.0001). Within this group, variants in the prolin-rich region of the POGZ protein were associated with the most severe phenotypes (p = 0.0004). Our study suggests that gain-of-function or dominant negative effect through escaping NMD and the location of the variants in the prolin-rich domain of the protein may play an important role in the severity of manifestations of POGZ-associated neurodevelopmental disorders.
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- 2022
14. Access to Highly Strained Tricyclic Ketals Derived from Coumarins
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Jonnalagadda, Sravan K., primary, Huwaimel, Bader I., additional, Jonnalagadda, Shirisha, additional, Garrison, Jered C., additional, and Trippier, Paul C., additional
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- 2022
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15. Durable Response to Pazopanib in Recurrent Metastatic Carotid Body Paraganglioma
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Jean Paul Atallah and Bader I Alshamsan
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medicine.medical_specialty ,Vincristine ,Kinase inhibitor ,medicine.diagnostic_test ,business.industry ,Dacarbazine ,Pazopanib ,Carotid body paraganglioma ,Carotid Artery Thrombosis ,Case Report ,lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,medicine.disease ,Carotid Body Paraganglioma ,lcsh:RC254-282 ,medicine.anatomical_structure ,Oncology ,Positron emission tomography ,Paraganglioma ,medicine ,Carotid body ,Radiology ,business ,medicine.drug - Abstract
We present the case of a 26-year-old woman living at a high altitude diagnosed initially with nonfamilial and nonsecretory localized carotid body tumor managed with surgery, which developed into a recurrent metastatic tumor treated with cyclophosphamide, vincristine, and dacarbazine. The patient continued to progress and developed a left carotid artery thrombosis and worsening of her systemic symptoms. The patient was re-evaluated, and she decided on no further surgery or systemic therapy. DOTATATE positron emission tomography/computed tomography showed widespread somatostatin-avid disease involving the left carotid bulb mass, bilateral lung nodules, and liver metastases, with the largest in the right hepatic lobe measuring 8 × 7 cm. There were peripancreatic lymph nodes and scattered skeletal metastases. The patient sought a second opinion, on the basis of which she was prescribed pazopanib, to which she showed a dramatic clinical response after 1 month, followed by a durable response for 1 year. Tyrosine kinase inhibitors such as pazopanib are potentially useful in paraganglioma, with further studies needed to understand the role of vascular endothelial growth factor receptor-directed kinase inhibitors in this setting.
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- 2020
16. Caecum actinomycosis with acute abdomen: A case report
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Abdullah M. Albishi, Yahia I. Assiri, Abdullah S. Alqahtani, Esam A. Asmiri, Ali A. Alshehri, and Bader I. Asiri
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Abdominal pain ,medicine.medical_specialty ,020205 medical informatics ,Ileocaecal resection ,Iliac fossa ,Lumen (anatomy) ,Physical examination ,Case Report ,02 engineering and technology ,Actinomycosis ,Lymphoid hyperplasia ,Acute abdomen ,03 medical and health sciences ,0302 clinical medicine ,وجع بطن ,0202 electrical engineering, electronic engineering, information engineering ,medicine ,Appendectomy ,030212 general & internal medicine ,داء الشعيات ,البطن الحاد ,lcsh:R5-920 ,medicine.diagnostic_test ,biology ,business.industry ,General Medicine ,Caecum actinomycosis ,استئصال اللفائفية ,medicine.disease ,biology.organism_classification ,medicine.anatomical_structure ,Radiology ,medicine.symptom ,business ,lcsh:Medicine (General) ,استئصال الزائدة الدودية ,Actinomyces - Abstract
الملخص: داء الشعيات البطني، أحد أسباب اضطرابات اللفائفي الأعوري، وعادة ما يتم التفكير فيه عند استبعاد الحالات السريرية الأخرى الأكثر شيوعا. داء الشعيات هو اضطراب جرثومي نادر ينجم عن أنواع الإكتينوميسات. نقدم جنديًا سعوديًا يبلغ من العمر ٣٨ عاما تعرض لألم في الحفرة الحرقفية اليمنى لأربعة أيام. بدأ هذا الألم على شكل طعن تدريجيا. بناء على الفحص السريري للمريض والموجات فوق الصوتية للبطن، تم إجراء عملية استئصال الزائدة الدودية. وأظهر الفحص النسيجي داء الشعيات الزائدي مع تضخم اللمفاوية، واحتقان المصلية والبكتيريا الخيطية في تجويف الزائدة الدودية. تم علاج المريض بالأموكسيسيلين. وأظهرت الأشعة المقطعية مع الصبغة للبطن، وأظهر التصوير بالرنين المغناطيسي ارتفاع سماكة جدار الأعور ٤.٣ × ٢.٩ سم. خضع المريض أخيرا لاستئصال اللفائفي الأعوري بمساعدة التنظير مع مفاغرة اللفائفي القولوني. أظهر التقرير النسيجي مواد غذائية متكلسة في الرتج مع التهاب مزمن دون داء الشعيات التي كان يمكن علاجها والقضاء عليها من خلال العلاج بالمضادات الحيوية السابقة. Abstract: Abdominal actinomycosis, one of the causes of ileocaecal disorders, is usually considered when other more common clinical conditions have been excluded. Actinomycosis is a rare infectious bacterial disorder caused by the Actinomyces species. We present the case of a 38-year male Saudi soldier who presented with pain in the right iliac fossa since 4 days prior to presentation. This stabbing pain started gradually. Based on clinical examination and abdominal ultrasound findings, an appendectomy was performed. Histological examination revealed appendicular actinomycosis with lymphoid hyperplasia, serosa congestion, and filamentous bacteria in the appendicular lumen. The patient was treated with amoxicillin. During follow-up, contrast-enhanced abdominal computed tomography (CT) and magnetic resonance imaging (MRI) revealed a 4.3 × 2.9 cm thickened caecal wall. Thereafter, the patient underwent laparoscope-assisted ileocaecal resection with ileocolic anastomosis. The histological report revealed calcified food material in the diverticulum, with chronic inflammation without actinomycosis, which may have been eradicated by the previous antibiotic treatment. الكلمات المفتاحية: البطن الحاد, وجع بطن, داء الشعيات, استئصال الزائدة الدودية, استئصال اللفائفية, Keywords: Acute abdomen, Abdominal pain, Actinomycosis, Appendectomy, Caecum actinomycosis, Ileocaecal resection
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- 2020
17. Incidence and predictors of eosinophilic myocardial hypersensitivity in patients receiving home dobutamine
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Dagan, M, primary, Lankaputhra, M, additional, Yeung, T, additional, Tee, S.L, additional, Bader, I, additional, Easton, K, additional, Linton, A, additional, McLean, C, additional, Taylor, A, additional, Bergin, P, additional, Kaye, D.M, additional, Leet, A, additional, Hare, J, additional, and Patel, H, additional
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- 2021
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18. Development, behaviour and autism in individuals with SMC1A variants
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Mulder, P.A., Huisman, S., Landlust, A.M., Moss, J., Bader, I., Balkom, I.D.C. van, Bisgaard, A.M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M.A., Diderich, K., Elting, M., Essen, A. van, FitzPatrick, D., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K.M., Hennekam, R.C., Hilhorst-Hofstee, Y., Hopman, S., Horn, D., Isrie, M., Jansen, S., Jespersgaard, C., Kaiser, F.J., Kaur, M., Kleefstra, T., Krantz, I.D., Lakeman, P., Lessel, D., Michot, C., Noon, S.E., Oliver, C., Parenti, I., Pie, J., Piening, S., Puisac, B., Ramos, F.J., Redeker, E., Rieubland, C., Russo, S., Selicorni, A., Tumer, Z., Vorstenbosch, R., Vries, I.M., Wenger, T.L., Wierzba, J., SMC1A Consortium, Clinical Genetics, Pediatric surgery, APH - Quality of Care, Human genetics, Amsterdam Reproduction & Development (AR&D), Graduate School, ANS - Cellular & Molecular Mechanisms, and Paediatric Genetics
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cognition ,Male ,Autism Spectrum Disorder ,Chromosomal Proteins, Non-Histone ,CHILDREN ,Cell Cycle Proteins ,COMMUNICATION ,Pediatrics ,0302 clinical medicine ,De Lange Syndrome ,Intellectual disability ,Developmental and Educational Psychology ,Spectrum disorder ,Child ,self-injurious behaviour ,05 social sciences ,SELF-INJURIOUS-BEHAVIOR ,Perinatology ,PREVALENCE ,and Child Health ,Psychiatry and Mental health ,Phenotype ,DE-LANGE-SYNDROME ,Autism spectrum disorder ,Child, Preschool ,Female ,Psychology ,050104 developmental & child psychology ,Clinical psychology ,Behavioural phenotype ,Adult ,Down syndrome ,cornelia de lange syndrome ,Cornelia de Lange Syndrome ,Adolescent ,autism ,Rett syndrome ,03 medical and health sciences ,Young Adult ,All institutes and research themes of the Radboud University Medical Center ,Journal Article ,medicine ,Humans ,0501 psychology and cognitive sciences ,Cognitive Dysfunction ,Pediatrics, Perinatology, and Child Health ,rett syndrome ,SPECTRUM DISORDER ,Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] ,MUTATIONS ,Infant ,NIPBL ,medicine.disease ,Cross-Sectional Studies ,Pediatrics, Perinatology and Child Health ,Autism ,Down Syndrome ,Self-Injurious Behavior ,030217 neurology & neurosurgery - Abstract
Introduction: Development and behaviour in Cornelia de Lange Syndrome (CdLS), including autism characteristics, have been described infrequently stratified to genetic cause and only a few studies have considered behavioural characteristics in relation to developmental level. Here, we describe the behavioural phenotype in individuals with CdLS with SMC1A variants. Methods: We performed an international, interdisciplinary study on 51 individuals with SMC1A variants. Results of questionnaire studies are compared to those in individuals with Down Syndrome and with Autism Spectrum Disorder. Results on cognition and self-injurious behaviour (SIB) are compared to those in individuals with CdLS caused by NIPBL variants. For Dutch participants with SMC1A variants we performed direct in-person assessments of cognition, autism, and added an interview and questionnaire on adaptive behaviour and sensory processing. Results: Individuals with SMC1A variants show a higher cognitive level and less SIB than individuals with NIPBL variants. Individuals with SMC1A variants without classic CdLS phenotype but with a Rett-like phenotype show more severe intellectual disability and more SIB compared to those with a CdLS phenotype. Autism is less present if outcomes in direct in-person assessments are evaluated taking developmental level into account compared to results based on a questionnaire. Conclusions: Behaviour in individuals with CdLS should be evaluated taking genetic cause into account. Detailed interdisciplinary approaches are of clinical importance to inform tailored care and may eventually improve quality of life of patients and families.
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- 2019
19. Views of Our Readers
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Barrett, Richard, Riesen,, Fred W., Concepcion, Manuel C., Barr, Malcolm, Bader, I. Walton, Fruin, Roger, Victor, William H., Selvin, Paul P., Gaunt, William W., Wilks, Richard B., Hafer, Hugh, Crane, Philip M., Copeland, W. Lloyd, and Coulter, R.R.
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- 1977
20. Views of Our Readers
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Bader, I. Walton, Vogel, Hilmond O., Goldsmith, S. Delvalle, Merriam, Charles J., Schmitz, Thomas M., Andrus, Elwin A., Stein, Melvyn E., Bigelow, Robert P., Baillie, Iain C., Robinson, B. L., Watterson, James G., Reitler, Henry, Hurst, Ronald A., de la Campa, Roman, Jackson,, Roy D., Catanzaro, Lorenzo L. J., Sullivan, Mark E., McNitt, Rollin L., Heinz, Elise B., Krainin, Harold L., McMorrow, Michael J., Knecht, William L., Hughes, Lynn N., Spilky, Abraham H., Misegades, Keith, Long, Hamilton A., Thornton, J. Edward, McCormick, John D., Wilk, Gordon, Bachmann, Daniel C., Beer, Peter, and MacArthur, Malcolm D.
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- 1972
21. Metaplastic breast cancer: Disease characteristics and outcome in Arab women.
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Alsayed, Adher, primary, Alshamsan, Bader I, additional, Alshibany, Aisha, additional, Elshenawy, Mahmoud Abdelsatar, additional, Badran, Ahmed ali, additional, Al-Tweigeri, Taher, additional, Ajarim, Dahish Saed, additional, and Suleman, Kausar, additional
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- 2021
- Full Text
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22. Patient's characteristics and outcome of small bowel adenocarcinoma in Saudi Arabia.
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Alshamsan, Bader I, primary, Badran, Ahmed ali, additional, Aseafan, Mohamed, additional, Shaheen, Amgad, additional, Elshenawy, Mahmoud Abdelsatar, additional, and Aljubran, Ali H, additional
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- 2021
- Full Text
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23. Assessing Frequency and Clinical Outcomes of BRCA Mutated Ovarian Cancer in Saudi Women
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Amgad Shahin Mohamed, Tusneem Elhassan, Fahed A Almugbel, Ayman Omar, Hamed Alhussainia, Hanan Alharthy, Hazem Abdullah Alotaibi, Sharifa Al-Farsi, Bader I Alshamsan, Heba Aly Ateya, Naela Agha, and Hany Salem
- Subjects
Adult ,Oncology ,medicine.medical_specialty ,Cancer Research ,Germline ,education ,Saudi Arabia ,Text mining ,Internal medicine ,Ethnicity ,Genetics ,Fallopian Tube Neoplasms ,Humans ,Medicine ,Founder mutation ,Germ-Line Mutation ,Peritoneal Neoplasms ,RC254-282 ,Retrospective Studies ,BRCA2 Protein ,Ovarian Neoplasms ,BRCA1 Protein ,business.industry ,BRCA mutation ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,Middle Aged ,medicine.disease ,BRCA1 ,BRCA2 ,Ovarian Cancer ,Female ,business ,Ovarian cancer ,Research Article - Abstract
Purpose BRCA gene mutations (BRCAm) have an impact on patients’ characteristics and clinical outcomes of ovarian cancer (OC). The frequency and patterns of BRCAm vary among countries and ethnicities. There are limited data from Saudi Arabia (SA); thus, this study aims to determine the frequency, pattern, and impact on patient characteristics and outcomes of BRCAm OC compared to wild-type BRCA (BRCAw) in Saudi women. Methods This retrospective study evaluated women diagnosed with non-mucinous OC, fallopian tube, or peritoneal carcinoma who had BRCA status tested in an accredited lab between January 2016 and December 2017. The associations between various parameters and BRCAm were estimated using logistic regression. Statistical analysis performed with SPSS (Version 27). Result Sixty-one women with a median age of 52 at diagnosis were analyzed. Germline BRCA mutations were found in 41% of cases (25/61). The most common deleterious germline BRCA1 mutation was c.1140dupG (39%). Most women (72%) had no family history of cancers and 82% had advanced stage. Regardless of BRCA mutations, an optimal overall response rate (ORR) to first-line treatment has been achieved although most cases relapsed (84%) and the majority were platinum-sensitive relapse (85%). Higher ORR to subsequent lines and better survival were obtained in women with BRCA-mutation. Conclusion The prevalence of BRCAm of OC was higher in Saudi women compared to regional and most of the international figures. The better clinical outcomes of BRCAm women agreed with the reported evidence. Further studies on BRCA mutations of OC and genetic counseling are highly recommended. Trial registration Trial approved by the Institutional Review Board of King Faisal Specialist Hospital and Research Center (RAC # 2171137) and conducted at King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11,211, Saudi Arabia.
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- 2021
24. Design and synthesis of mitochondrial respiratory complex II inhibitors and evaluation of anticancer activity
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Bader I Huwaimel
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- 2020
25. Discovery of Halogenated Benzothiadiazine Derivatives with Anticancer Activity**
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Huwaimel, Bader I., primary, Bhakta, Myla, additional, Kulkarni, Chaitanya A., additional, Milliken, Alexander S., additional, Wang, Feifei, additional, Peng, Aimin, additional, Brookes, Paul S., additional, and Trippier, Paul C., additional
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- 2021
- Full Text
- View/download PDF
26. 60. New Prognostic Markers for COVID-19 Disease
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Ramahi, Amr, primary, Chan, Kok Hoe, additional, Prabhakar, Laxminarayan, additional, Farouji, Iyad, additional, Thimmareddygari, Divya, additional, DaCosta, Theodore R, additional, Chittamuri, Sahithi, additional, Patel, Kinjal D, additional, Poudel, Bishnu, additional, Omour, Bader I Al, additional, Paige, Amy, additional, Joseph, Ormena, additional, Patel, Khamoshi, additional, Bhavsar, Nilam, additional, Shaaban, Hamid S, additional, and Slim, Jihad, additional
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- 2020
- Full Text
- View/download PDF
27. The outcome of vincristine, dactinomycin D, ifosfamide and doxorubicin (VAIA) as first-line therapy for adult-patients with metastatic ewing sarcoma; a single-center experience.
- Author
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Atallah, Jean Paul, primary, Elshenawy, Mahmoud Abdelsatar, additional, Badran, Ahmed ali, additional, Alata, Maaz Kamal, additional, Gad, Ahmed, additional, Alharbi, Abdulrahaman H., additional, Alquaydheb, Hisham N., additional, and Alshamsan, Bader I, additional
- Published
- 2020
- Full Text
- View/download PDF
28. Capecitabine therapy in recurrent/metastatic nasopharyngeal cancers.
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Alshamsan, Bader I, primary, Alata, Maaz Kamal, additional, Gad, Ahmed, additional, Alzahrani, Mashari J, additional, Elhassan, Tusneem, additional, and Atallah, Jean Paul, additional
- Published
- 2020
- Full Text
- View/download PDF
29. Association between obesity and the clinical stage of newly diagnosed breast cancer: Experience with 2212 patients.
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Alshamsan, Bader I, primary, Suleman, Kausar, additional, Agha, Naela, additional, Abdelgawad, Marwa Ismail, additional, Alzahrani, Mashari J, additional, Al-Tweigeri, Taher, additional, Ajarim, Dahish Saed, additional, Elhassan, Tusneem, additional, and Alsayed, Adher, additional
- Published
- 2020
- Full Text
- View/download PDF
30. Caecum actinomycosis with acute abdomen: A case report
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Asiri, Bader I., primary, Alshehri, Ali A., additional, Alqahtani, Abdullah S., additional, Albishi, Abdullah M., additional, Assiri, Yahia I., additional, and Asmiri, Esam A., additional
- Published
- 2020
- Full Text
- View/download PDF
31. Patient's characteristics and outcome of small bowel adenocarcinoma in Saudi Arabia
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Mahmoud A. Elshenawy, Ahmed Badran, Bader I Alshamsan, Amgad Shaheen, Ali Aljubran, and Mohamed Aseafan
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Cancer Research ,medicine.medical_specialty ,Oncology ,business.industry ,Internal medicine ,medicine ,Small bowel adenocarcinoma ,business ,Rare disease - Abstract
e16277 Background: Small bowel adenocarcinoma (SBA) is a rare disease. We aim to describe patient's characteristics and clinical outcomes among Saudi patients. Methods: All patients with SBA diagnosed between 2007 - 2020 were reviewed. Logistic regression was used to assess variables associated with metastasis at diagnosis, and a log-rank test was used to compare factors associated with survival. Results: Forty-three patients were eligible for analysis, and (76.7%) were males. The median age at diagnosis was 53 years. History was significant for colon cancer in two patients, celiac disease in three patients, Lynch syndrome, Familial adenomatous polyposis (FAP), Non-APC in one patient, and cholecystectomy in seven patients. The common initial presenting symptoms were abdominal pain (58.8%), bowel obstruction (30.2%), Overt gastrointestinal bleeding (9.3%). Tumor markers were elevated in 21 patients. EGD was used for diagnosis in 60.5%, while CT scan in 23.3%. The most common primary site was duodenum 60.5%, jejunum 27.9%, ilium 7%. Stage IV was (41.9%). The most common site for metastases was the liver in 10 patients. Patients' ECOG performance status was 0/1 in 51% at diagnosis. Univariate analysis did not reveal that patients with high Neutrophil-lymphocyte Ratio (NLR) (≥0.85) are more likely to be metastatic; P = 009. There was no association of sex, presenting complaints, tumor markers with the stage at diagnosis. Surgery was performed for 53.4% of patients (RO, 73%), and the median DFS was 49 vs. 8 months in R0 vs. R1 group, respectively (p = 0.01). FOLFOX Chemotherapy regimen was given for 10 patients as adjuvant treatment and for 8 patients for metastatic sitting. The median duration of follow-up was 12 months. The median overall survival (OS) for localized stages was not reached, and for the metastatic stage was 10 months. The 3 years OS based on stages were 100% (I), 85% (II), 53% (III) and 35% for (IV), p = 0.001. Other factors associated with survival were ECOG Performance status (p < 0.001), NLR ( < 0.001), CA19-9 (p = 0.04), and receiving chemotherapy in a metastatic setting (p = 0.02). Conclusions: SBA is diagnosed at a younger age in Saudi patients and more in males. The advanced stage, lower performance status score, high CA19-9, and high NLR at diagnosis are associated with poor OS. NLR could be a prognostic factor for a metastatic stage at diagnosis.
- Published
- 2021
32. Metaplastic breast cancer: Disease characteristics and outcome in Arab women
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Adher Al-Sayed, Mahmoud A. Elshenawy, Dahish Ajarim, Ahmed Badran, Kausar Suleman, Taher Al-Tweigeri, Aisha Alshibany, and Bader I Alshamsan
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Oncology ,Cancer Research ,medicine.medical_specialty ,Breast cancer ,business.industry ,Internal medicine ,Medicine ,Disease characteristics ,Disease ,business ,medicine.disease - Abstract
e12534 Background: Metaplastic breast cancer (MPBC) accounts for less than 1% of all breast cancer subtypes. Methods: Patients diagnosed with MPBC between 2001 are 2018 were reviewed. Disease characteristics, progression-free survival (PFS), and overall survival (OS) were estimated by the Kaplan-Meier method and compared by log-rank test. Results: Fifty-five MPBC patients were analyzed. The median was 46 years (IQR 40–55). 14.5% had a positive family history of cancer. The majority (98.2%) presented with a lump, and two patients presented with bilateral disease. The median BMI was 31 (IQR 24.5–37.5). The majority had stage III (56.4%), and stage IV was (7.3%). Most patients (90.9%) had triple-negative disease. The tumor grade (G) was available for 63.6% of patients (G2 11.4% and G3 88.6%). Nineteen patients (34.5%) received neoadjuvant chemotherapy (NAC) [anthracycline-based (15,78.9%), and platinum-taxane (11, 57.8%)]. The majority (92.7%) underwent surgery, 56.4% MRM, 12.7% BCT, 12.7% simple mastectomy, 7.3% palliative mastectomy. 54.5% underwent ALND and 20% SLNB. One patient had pCR. Adjuvant radiation was given for (33, 60%) and (37, 67.3%) received adjuvant radiation therapy. The median follow-up duration is 44 months (IQR 21–69). For nonmetastatic disease, 3-years DFS was 67.5%. There was no difference in DFS with using NAC (p-0.96) or being obese (p = 0.50). The 3-years OS was 72.9%, and the Log-rank test revealed prolonged survival with radiation therapy 87.1% vs. 56.6% ( p = 0.02) and earlier stage at diagnosis. 3-years OS for stage II was 92.9%, stage III was 71%, and no survival in stage IV (p < 0.001). There was a clinical difference in 3 years OS between obese vs. nonobese 61.3% vs. 85.9%, with no statistical significance (p = 0.15). Conclusions: The majority of patients diagnosed with MPBC had large tumor size, nodal disease, and more triple-negative disease, locally advanced and nonmetastatic. The DFS and OS were comparable to reported survival. There is a significant correlation between survival and stage and adjuvant radiation therapy.
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- 2021
33. New onset refractory status epilepticus due to primary angiitis of the central nervous system
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Rawan K. Matar, Sami Khairy, Bader I Alshamsan, Saleh Alsaleh, Salah Baz, Khalid O. Alahmedi, and Hindi Al-Hindi
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Pathology ,medicine.medical_specialty ,NORSE ,Central nervous system ,Cns vasculitis ,Status epilepticus ,Article ,New onset ,lcsh:RC321-571 ,03 medical and health sciences ,Behavioral Neuroscience ,0302 clinical medicine ,Refractory ,medicine ,CNS angiitis ,lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry ,030203 arthritis & rheumatology ,Autoimmune encephalitis ,Primary angiitis ,business.industry ,medicine.disease ,medicine.anatomical_structure ,Neurology ,CNS vasculitis ,Neurology (clinical) ,medicine.symptom ,business ,Vasculitis ,030217 neurology & neurosurgery - Abstract
Primary Angiitis of the central nervous system is a rare and poorly understood variant of vasculitis. We narrate a case of a 46-year-old male who presented with new onset refractory status epilepticus mimicking autoimmune encephalitis. In this case we are reporting clues that could be useful for diagnosis and extensive literature review on the topic.
- Published
- 2017
34. Usefulness of scintimammography as an adjunct to mammography and ultrasound in the diagnosis of breast diseases
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Gupta, R, Collier, D, Abdeen, S, Roberts, L, Hussein, A YT, Al-Bader, I, and Syed, G M
- Published
- 2006
35. Views of Our Readers
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Baker, Helen, Dokson, Robert N., Kramer, Myron N., Connelly, Robert L., Murphy, Laura Matlaw, Bradley, Phillip A., Semel, Richard S., Jenswold, John F., Showalter, J. Stuart, Thornton, J. Edward, Dickerson, Jeffrey A., Costello, Joseph L., Sutin, Lewis R., Bader, I. Walton, Heyne, William P., and Bernstein, Charles S.
- Published
- 1982
36. 1657P Pazopanib treatment outcome in advanced soft tissue sarcoma: Real-world data
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T. Elhassan, F. Maraiki, J.P. Atallah, Mahmoud A. Elshenawy, Bader I Alshamsan, Ahmed Badran, and A. Alshibany
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medicine.medical_specialty ,business.industry ,Soft tissue sarcoma ,Epithelioid sarcoma ,Hematology ,Neutropenia ,medicine.disease ,Gastroenterology ,Synovial sarcoma ,Pazopanib ,Oncology ,Tolerability ,Response Evaluation Criteria in Solid Tumors ,Internal medicine ,Alveolar soft part sarcoma ,medicine ,business ,medicine.drug - Abstract
Background Pazopanib is approved for use after the failure of chemotherapy for soft tissue sarcoma. We aimed to evaluate the clinical outcome and tolerability in a real-world setting. Methods Patients treated between June 2015 and August 2019 were reviewed. The response was assessed at 8 and 12 weeks using the Response Evaluation Criteria in Solid Tumors version 1.1. Survival analysis was performed using the Kaplan-Meier method. Toxicity was assessed using the Common Terminology Criteria v. 5.0. Results Forty-five patients (51% male) were identified; the median age at diagnosis was 28 years (IQR 23–45 years). The histology subtypes were 26.7% undifferentiated pleomorphic sarcoma (UPS), 15.6% synovial sarcoma (SS), 17% leiomyosarcoma, 8.9% alveolar soft part sarcoma, 8.9% fibrosarcoma, 6.7% epithelioid sarcoma, and 13.3% other types. The most common site for metastases was the lung (55.6%) and liver (13.3%). Pazopanib was used as the second-line and subsequent-line therapy in 46.7% and 53.3% of patients, respectively. At 8 weeks, the clinical benefits rate was 48.9% (7 partial response (PR), 15 stable diseases (SD)), and at 12 weeks, it was 35.5% (6 PR, 10 SD). The median duration of response was 7 months and 3 patients maintained a response more than 12 months; two UPS and 1 SS. The median progression-free survival (PFS) was 3 months (95% confidence interval (CI): 0.75–6.), and the median overall survival was 13 months (95% CI: 7–18.9). There was no statistical difference between using pazopanib as a second- or subsequent line therapy, 5 vs. 2.9 months (p = 0.44). Totally, 71% of patients were maintained on the full dose (800 mg) and led to discontinuation in 9.5% patients because of transaminitis, interstitial lung disease, or fatigue. The reported grade III/IV toxicities (9 patients) were hypertension, neutropenia, thrombocytopenia, anemia, diarrhea, and fatigue. The most common grade I and II toxicities were anemia 35.5%, hypothyroidism 35.1%, transaminitis 28.9%, thrombocytopenia 24.5%, neutropenia 22.2%, hypophosphatemia 21.6%, and hypertension 15.9%. Conclusions Pazopanib was found to be tolerable and effective with outcomes comparable to those reported in clinical trials. No difference in PFS was observed when used either as a second- or subsequent line therapy.
- Published
- 2020
37. 264P Neutrophil-to-lymphocyte ratio as a prognostic factor for neoadjuvant chemotherapy for locally advanced breast cancer
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Dahish Ajarim, T. Elhassan, Taher Al-Tweigeri, Kausar Suleman, N. Fahmy, Bader I Alshamsan, Ahmed Badran, Adher Al-Sayed, Mahmoud A. Elshenawy, and M.J. Aseafan
- Subjects
Oncology ,medicine.medical_specialty ,Chemotherapy ,Prognostic factor ,business.industry ,medicine.medical_treatment ,Locally advanced ,Hematology ,medicine.disease ,Breast cancer ,Internal medicine ,medicine ,Neutrophil to lymphocyte ratio ,business - Published
- 2020
38. Capecitabine therapy in recurrent/metastatic nasopharyngeal cancers
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Jean Paul Atallah, Tusneem Elhassan, Ahmed Gad, Mashari J Alzahrani, Bader I Alshamsan, and Maaz Kamal Alata
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Capecitabine ,Antitumor activity ,Oncology ,Cancer Research ,medicine.medical_specialty ,business.industry ,Internal medicine ,medicine ,In patient ,business ,medicine.drug ,Nasopharyngeal cancer - Abstract
e18515 Background: A wide range of chemotherapeutic agents have demonstrated antitumor activity in patients with recurrent or metastatic Nasopharyngeal Cancers (NPC). These therapeutic agents have different efficacy and toxicity profile. Capecitabine monotherapy had activity in recurrent/metastatic NPC based on small previous retrospective studies. The primary objective is to evaluate the overall response rate and tolerability of capecitabine in recurrent/metastatic NPC. Methods: A retrospective electronic chart review performed for 51 cases of recurrent/metastatic NPC patients who received capecitabine 1000-1,250 mg/m² twice daily two weeks on, one week off between 2011 to 2019 at King Faisal Specialist Hospital & Research Center (KFSH&RC). The Common Terminology Criteria for Adverse Events (CTCAE) Version 5.0 was used. Results: The median age at diagnosis was 42 years. 98% had a non-keratinized undifferentiated squamous cell carcinoma (Grade III). The most common sites for metastases were Bone (58.3%), Lung (50.0%), and liver (45.8%). 95% of patients received platinum-based chemotherapy and radiation therapy as the primary treatment. Capecitabine was used as the second or third line of treatment in the metastatic setting 45.1% and 43.1%, respectively. The patients tolerated the standard dose for a median of 6 cycles; only 20.0% of patients required a 25% dose reduction. The best response for capecitabine was complete response in 8 patients (15.7%), partial response in 14 patients (27.5%), stable disease in 10 patients, (19.6%), with a clinical benefit achieved in 32 patients (62.7%), and progressive disease in 16 patients (31.4%). The overall response rate to capecitabine was 43.2%, which was consistent regardless of the site of metastasis. The median progression-free survival was seven months (95%.CI: 5.3 -8.8). The one and three-year survival rates were 79% and 53%, respectively. Capecitabine was generally tolerated, the most common grade I & II adverse events were hand-foot syndrome (HFS) in 9 patients (20.5%), fatigue in 8 patients (15.7%), Diarrhea in 6 patients (11.7%), anemia in 5 patients (9.8 %), thrombocytopenia in 4 patients (7.8%) and neutropenia in 2 patients (4.0%). The most common grade III & IV was HFS in 3 patients (6%) and fatigue in one patient (2%) that led to treatment discontinuation after the first cycle. Conclusions: Capecitabine in Recurrent/Metastatic NPC is an effective and well-tolerated oral agent; however, a randomized prospective trial to evaluate capecitabine efficacy in this setting still recommended.
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- 2020
39. Association between obesity and the clinical stage of newly diagnosed breast cancer: Experience with 2212 patients
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Kausar Suleman, Mashari J Alzahrani, Naela Agha, Tusneem Elhassan, Adher Al-Sayed, Dahish Ajarim, Marwa I. Abdelgawad, Bader I Alshamsan, and Taher Al-Tweigeri
- Subjects
Oncology ,Cancer Research ,medicine.medical_specialty ,business.industry ,Excess weight ,Cancer ,Newly diagnosed ,Overweight ,medicine.disease ,Obesity ,03 medical and health sciences ,0302 clinical medicine ,Breast cancer ,030220 oncology & carcinogenesis ,Internal medicine ,Medicine ,Risk factor ,medicine.symptom ,Stage (cooking) ,business ,030215 immunology - Abstract
e12602 Background: Excess weight is currently recognized as a risk factor for several cancer types, including breast cancer. The primary goal of this study was to evaluate the impact of overweight and obesity in newly diagnosed breast cancer patients at the time of presentation. Methods: A retrospective analysis of breast cancer from a prospective database of all newly diagnosed non-metastatic breast cancer patients seen at King Faisal Specialist Hospital and Research Center between 2002 and 2014 was performed. The clinical stages were divided into early stage breast cancer and locally advanced breast cancer. The body mass index (BMI) groups were underweight, normal, overweight, and obese based on the World Health Organization classifications of BMI. The patient characteristics are presented as medians with interquartile ranges (IQRs) and frequencies for continuous and categorical variables, respectively. The association between BMI groups and clinical stage at presentation was evaluated using the logistic regression model. Survival probabilities were calculated using the Kaplan-Meier estimator. Results: In total, 2212 patients were eligible for the study. The median age at diagnosis was 45 (IQR = 39-52) years; 62% patients were pre-menopausal, and 31% were post-menopausal. The median BMI was 30 (IQR = 26-34) kg/m2. In this population, 53% patients were obese; 31%, overweight; and 14.7%, in the normal range at diagnosis. Regression analysis revealed a significant association between clinical stage and BMI at the time of presentation (p = 0.006). Obese patients showed a 40% higher chance of having locally advanced presentation than the normal BMI group (OR = 1.41, 95% confidence interval = 1.06-1.86, p = 0.02). However, overweight had no significant association with clinical stage (OR = 1.03, 95% confidence interval = 0.76-1.8). The median follow-up duration was 39 (IQR = 22-66.6) months. Overall survival showed no significant association with different BMI groups and breast cancer subtypes. Conclusions: The prevalence of overweight and obesity was found to be high (85%) in newly diagnosed breast cancer patients in Saudi Arabia. Obesity is associated with a more advanced clinical stage at the time of diagnosis of breast cancer and may be a contributing factor for more locally advanced presentations in the region.
- Published
- 2020
40. The outcome of vincristine, dactinomycin D, ifosfamide and doxorubicin (VAIA) as first-line therapy for adult-patients with metastatic ewing sarcoma; a single-center experience
- Author
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Mahmoud A. Elshenawy, Abdulrahaman H. Alharbi, Ahmed Badran, Ahmed Gad, Bader I Alshamsan, Hisham N. Alquaydheb, Maaz Kamal Alata, and Jean Paul Atallah
- Subjects
Oncology ,Cancer Research ,medicine.medical_specialty ,Vincristine ,Ifosfamide ,Dactinomycin ,business.industry ,medicine.disease ,Malignancy ,Single Center ,Metastatic Ewing Sarcoma ,Internal medicine ,medicine ,Doxorubicin ,Sarcoma ,business ,medicine.drug - Abstract
e23501 Background: Ewing sarcoma family of tumors (ESFT) is a rare malignancy among adults. Most studies from western countries have reported improvement in outcomes following multi-agent chemotherapy. We report our experience in the management of this disease among Arab ethnicity. The aim of this study is to assess the outcome of VAIA combination as a first-line treatment in Adult-patients with metastatic Ewing sarcoma. Methods: Patients who were newly diagnosed as metastatic Ewing sarcoma between 03/1997 and 11/2016 at King Faisal Specialist Hospital and Research Center, who received VAIA as first-line therapy were eligible. The patient's characteristics were summarized using Medians with interquartile ranges (IQR) and frequencies for continuous and categorical variables, respectively. Variables including age, sex, primary tumor size, site (skeletal vs extraskeletal) and extent of metastasis in correlation with progression and overall survival were analyzed using the Kaplan–Meier method and Cox proportional hazards regression. Results: Thirty-nine patients were identified. Male (26, 66.7%), Female (13, 33.3%). Skeletal (27, 69.2%), Extraskeletal (12, 30.8%). The median longest diameter of the primary tumor 9.75 (IQR 8-15). The most common metastatic sites were Lungs (22, 56.4%) & Bone (10, 25.6%), however, the least common sites were Bone Marrow (3, 7.7%) and liver (2, 5.1%). The median number of VAIA cycles was 10 cycles (IQR 5-14). Objective response rate (ORR) was noticed in 20 patients (51.2%) (Complete Remission (7, 17.9%), Partial Remission (13, 33.3%). One patient had stable disease and 12 (30.8%) patients had progressive disease. The assessment was not feasible in 3 (7.7%) patients. With a median follow up duration of 18 months (1-44).20 patients died (62.5%). The median PFS and OS was 10,18 months respectively with 3,5 years overall survival rate of;35.7%,26.9% respectively. Univariate analysis correlation among different variables were insignificant. Conclusions: VAIA chemotherapy combination showed poor outcomes among our patients in comparison to literature further improvement is needed in this aggressive malignancy in our region.
- Published
- 2020
41. Home Inotrope Therapy for Heart Failure 2012–2017: The Alfred Hospital Experience
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Bader, I., primary, Kaye, D., additional, Taylor, A., additional, Leet, A., additional, Hare, J., additional, MacFarlane, L., additional, Easton, K., additional, Stronebrink, R., additional, and Bergin, P., additional
- Published
- 2018
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42. Phenotypes and genotypes in individuals with SMC1A variants
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Huisman, S., Mulder, P.A., Redeker, E., Bader, I., Bisgaard, A.M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M.A., Diderich, K., Elting, M., Essen, A. van, Fitzpatrick, D., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K.M., Hilhorst-Hofstee, Y., Hopman, S., Horn, D., Isrie, M., Jansen, S, Jespersgaard, C., Kaiser, F.J., Kaur, M., Kleefstra, T., Krantz, I.D., Lakeman, P., Landlust, A., Lessel, D., Michot, C., Moss, J., Noon, S.E., Oliver, C., Parenti, I., Pie, J., Ramos, F.J., Rieubland, C., Russo, S., Selicorni, A., Tumer, Z., Vorstenbosch, R., Wenger, T.L., Balkom, I.D.C. van, Piening, S., Wierzba, J., Hennekam, R.C., Huisman, S., Mulder, P.A., Redeker, E., Bader, I., Bisgaard, A.M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M.A., Diderich, K., Elting, M., Essen, A. van, Fitzpatrick, D., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K.M., Hilhorst-Hofstee, Y., Hopman, S., Horn, D., Isrie, M., Jansen, S, Jespersgaard, C., Kaiser, F.J., Kaur, M., Kleefstra, T., Krantz, I.D., Lakeman, P., Landlust, A., Lessel, D., Michot, C., Moss, J., Noon, S.E., Oliver, C., Parenti, I., Pie, J., Ramos, F.J., Rieubland, C., Russo, S., Selicorni, A., Tumer, Z., Vorstenbosch, R., Wenger, T.L., Balkom, I.D.C. van, Piening, S., Wierzba, J., and Hennekam, R.C.
- Abstract
Item does not contain fulltext, SMC1A encodes one of the proteins of the cohesin complex. SMC1A variants are known to cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing has allowed recognizing SMC1A variants in individuals with encephalopathy with epilepsy who do not resemble CdLS. We performed an international, interdisciplinary study on 51 individuals with SMC1A variants for physical and behavioral characteristics, and compare results to those in 67 individuals with NIPBL variants. For the Netherlands all known individuals with SMC1A variants were studied, both with and without CdLS phenotype. Individuals with SMC1A variants can resemble CdLS, but manifestations are less marked compared to individuals with NIPBL variants: growth is less disturbed, facial signs are less marked (except for periocular signs and thin upper vermillion), there are no major limb anomalies, and they have a higher level of cognitive and adaptive functioning. Self-injurious behavior is more frequent and more severe in the NIPBL group. In the Dutch group 5 of 13 individuals (all females) had a phenotype that shows a remarkable resemblance to Rett syndrome: epileptic encephalopathy, severe or profound intellectual disability, stereotypic movements, and (in some) regression. Their missense, nonsense, and frameshift mutations are evenly spread over the gene. We conclude that SMC1A variants can result in a phenotype resembling CdLS and a phenotype resembling Rett syndrome. Resemblances between the SMC1A group and the NIPBL group suggest that a disturbed cohesin function contributes to the phenotype, but differences between these groups may also be explained by other underlying mechanisms such as moonlighting of the cohesin genes.
- Published
- 2017
43. CAD mutations and uridine-responsive epileptic encephalopathy
- Author
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Koch, J., Mayr, J.A., Alhaddad, B., Rauscher, C., Bierau, J., Kovacs-Nagy, R., Coene, K.L.M., Bader, I., Holzhacker, M., Prokisch, H., Venselaar, H., Wevers, R.A., Distelmaier, F., Polster, T., Leiz, S., Betzler, C., Strom, T.M., Sperl, W., Meitinger, T., Wortmann, S.B., Haack, T.B., Koch, J., Mayr, J.A., Alhaddad, B., Rauscher, C., Bierau, J., Kovacs-Nagy, R., Coene, K.L.M., Bader, I., Holzhacker, M., Prokisch, H., Venselaar, H., Wevers, R.A., Distelmaier, F., Polster, T., Leiz, S., Betzler, C., Strom, T.M., Sperl, W., Meitinger, T., Wortmann, S.B., and Haack, T.B.
- Abstract
Contains fulltext : 169910.pdf (publisher's version ) (Closed access), Unexplained global developmental delay and epilepsy in childhood pose a major socioeconomic burden. Progress in defining the molecular bases does not often translate into effective treatment. Notable exceptions include certain inborn errors of metabolism amenable to dietary intervention. CAD encodes a multifunctional enzyme involved in de novo pyrimidine biosynthesis. Alternatively, pyrimidines can be recycled from uridine. Exome sequencing in three families identified biallelic CAD mutations in four children with global developmental delay, epileptic encephalopathy, and anaemia with anisopoikilocytosis. Two died aged 4 and 5 years after a neurodegenerative disease course. Supplementation of the two surviving children with oral uridine led to immediate cessation of seizures in both. A 4-year-old female, previously in a minimally conscious state, began to communicate and walk with assistance after 9 weeks of treatment. A 3-year-old female likewise showed developmental progress. Blood smears normalized and anaemia resolved. We establish CAD as a gene confidently implicated in this neurometabolic disorder, characterized by co-occurrence of global developmental delay, dyserythropoietic anaemia and seizures. While the natural disease course can be lethal in early childhood, our findings support the efficacy of uridine supplementation, rendering CAD deficiency a treatable neurometabolic disorder and therefore a potential condition for future (genetic) newborn screening.
- Published
- 2017
44. Phenotypes and genotypes in individuals with SMC1A variants
- Author
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Huisman, S.A. (Sylvia), Mulder, P.A. (Paul A.), Redeker, E.J.W. (Egbert), Bader, I. (Ingrid), Bisgaard, A.-M. (Anne-Marie), Brooks, A.S. (Alice), Cereda, A., Cinca, C. (Constanza), Clark, D. (Dinah), Cormier-Daire, V. (Valerie), Deardorff, M.A. (Matthew), Diderich, K.E.M. (Karin), Elting, M. (Mariet), Essen, J.A. (Anthonie) van, Fitzpatrick, D.R. (David R.), Gervasini, C., Gillessen-Kaesbach, G. (Gabriele), Girisha, K.M. (Katta M), Hilhorst-Hofstee, Y. (Yvonne), Hopman, S.M.J. (Saskia), Horn, D. (Denise), Isrie, M. (Mala), Jansen, S. (Sandra), Jespersgaard, C. (Cathrine), Kaiser, F.J. (Frank), Kaur, M. (Maninder), Kleefstra, T. (Tjitske), Krantz, D.H. (David), Lakeman, P. (Phillis), Landlust, A. (Annemiek), Lessel, D. (Davor), Michot, C. (Caroline), Moss, J. (Jo), Noon, S.E. (Sarah E.), Oliver, C. (Chris), Parenti, I., Pie, J. (Juan), Ramos, F.J., Rieubland, C. (Claudine), Russo, S. (Sascha), Selicorni, A. (Angelo), Tümer, Z., Vorstenbosch, R. (Rieneke), Wenger, T.L. (Tara L.), van Balkom, I. (Ingrid), Piening, S. (Sigrid), Wierzba, J. (Jolanta), Hennekam, R.C.M. (Raoul), Huisman, S.A. (Sylvia), Mulder, P.A. (Paul A.), Redeker, E.J.W. (Egbert), Bader, I. (Ingrid), Bisgaard, A.-M. (Anne-Marie), Brooks, A.S. (Alice), Cereda, A., Cinca, C. (Constanza), Clark, D. (Dinah), Cormier-Daire, V. (Valerie), Deardorff, M.A. (Matthew), Diderich, K.E.M. (Karin), Elting, M. (Mariet), Essen, J.A. (Anthonie) van, Fitzpatrick, D.R. (David R.), Gervasini, C., Gillessen-Kaesbach, G. (Gabriele), Girisha, K.M. (Katta M), Hilhorst-Hofstee, Y. (Yvonne), Hopman, S.M.J. (Saskia), Horn, D. (Denise), Isrie, M. (Mala), Jansen, S. (Sandra), Jespersgaard, C. (Cathrine), Kaiser, F.J. (Frank), Kaur, M. (Maninder), Kleefstra, T. (Tjitske), Krantz, D.H. (David), Lakeman, P. (Phillis), Landlust, A. (Annemiek), Lessel, D. (Davor), Michot, C. (Caroline), Moss, J. (Jo), Noon, S.E. (Sarah E.), Oliver, C. (Chris), Parenti, I., Pie, J. (Juan), Ramos, F.J., Rieubland, C. (Claudine), Russo, S. (Sascha), Selicorni, A. (Angelo), Tümer, Z., Vorstenbosch, R. (Rieneke), Wenger, T.L. (Tara L.), van Balkom, I. (Ingrid), Piening, S. (Sigrid), Wierzba, J. (Jolanta), and Hennekam, R.C.M. (Raoul)
- Abstract
SMC1A encodes one of the proteins of the cohesin complex. SMC1A variants are known to cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing has allowed recognizing SMC1A variants in individuals with encephalopathy with epilepsy who do not resemble CdLS. We performed an international, interdisciplinary study on 51 individuals with SMC1A variants for physical and behavioral characteristics, and compare results to those in 67 individuals with NIPBL variants. For the Netherlands all known individuals with SMC1A variants were studied, both with and without CdLS phenotype. Individuals with SMC1A variants can resemble CdLS, but manifestations are less marked compared to individuals with NIPBL variants: growth is less disturbed, facial signs are less marked (except for periocular signs and thin upper vermillion), there are no major limb anomalies, and they have a higher level of cognitive and adaptive functioning. Self-injurious behavior is more frequent and more severe in the NIPBL group. In the Dutch group 5 of 13 individuals (all females) had a phenotype that shows a remarkable resemblance to Rett syndrome: epileptic encephalopathy, severe or profound intellectual disability, stereotypic movements, and (in some) regression. Their missense, nonsense, and frameshift mutations are evenly spread over the gene. We conclude that SMC1A variants can result in a phenotype resembling CdLS and a phenotype resembling Rett syndrome. Resemblances between the SMC1A group and the NIPBL group suggest that a disturbed cohesin function contributes to the phenotype, but differences between these groups may also be explained by other underlying mechanisms such as moonlighting of the cohesin genes.
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- 2017
- Full Text
- View/download PDF
45. Phenotypes and genotypes in individuals with SMC1A variants
- Author
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Huisman, S, Mulder, PA, Redeker, E, Bader, I, Bisgaard, AM, Brooks, A, Cereda, A, Cinca, C, Clark, D, Cormier-Daire, V, Deardorff, MA, Diderich, K, Elting, M, van Essen, A, FitzPatrick, D, Gervasini, C, Gillessen-Kaesbach, G, Girisha, KM, Hilhorst-Hofstee, Y, Hopman, S, Horn, D, Isrie, M, Jansen, S (Silke), Jespersgaard, C, Kaiser, FJ, Kaur, M, Kleefstra, T, Krantz, ID, Lakeman, P, Landlust, A, Lessel, D, Michot, C, Moss, J, Noon, SE, Oliver, C, Parenti, I, Pie, J, Ramos, FJ, Rieubland, C, Russo, S, Selicorni, A, Tumer, Z, van de Vorstenbosch, R, Wenger, TL, van Balkom, I, Piening, S, Wierzba, J, Hennekam, RC, Huisman, S, Mulder, PA, Redeker, E, Bader, I, Bisgaard, AM, Brooks, A, Cereda, A, Cinca, C, Clark, D, Cormier-Daire, V, Deardorff, MA, Diderich, K, Elting, M, van Essen, A, FitzPatrick, D, Gervasini, C, Gillessen-Kaesbach, G, Girisha, KM, Hilhorst-Hofstee, Y, Hopman, S, Horn, D, Isrie, M, Jansen, S (Silke), Jespersgaard, C, Kaiser, FJ, Kaur, M, Kleefstra, T, Krantz, ID, Lakeman, P, Landlust, A, Lessel, D, Michot, C, Moss, J, Noon, SE, Oliver, C, Parenti, I, Pie, J, Ramos, FJ, Rieubland, C, Russo, S, Selicorni, A, Tumer, Z, van de Vorstenbosch, R, Wenger, TL, van Balkom, I, Piening, S, Wierzba, J, and Hennekam, RC
- Published
- 2017
46. Reversible Epileptic Encephalopathy upon Uridine Treatment in Patients with CAD Mutations
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Koch, J., additional, Mayr, Johannes, additional, Alhaddad, B., additional, Rauscher, C., additional, Bader, I., additional, Distelmaier, F., additional, Polster, T., additional, Leiz, S., additional, Betzler, C., additional, Sperl, W., additional, Wortmann, S., additional, and Haack, T., additional
- Published
- 2017
- Full Text
- View/download PDF
47. Using the Heart Foundation Heart Failure Toolkit to Design a Model of Care for Patients Admitted with Heart Failure
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Hopper, I., primary, Easton, K., additional, Bader, I., additional, Campbell, J., additional, Bergin, P., additional, and Kaye, D., additional
- Published
- 2017
- Full Text
- View/download PDF
48. DEFERRED STENTING - AN ALTERNATIVE STRATEGY FOR THE INVASIVE MANAGEMENT OF STEMI PATIENTS WITH SIGNIFICANT THROMBUS BURDEN
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Attar, M., primary, Bader, I., additional, Tyrrell, B., additional, Ranjbar, K., additional, Leung, R., additional, Brass, N., additional, Cheung, P., additional, Hui, W., additional, and Dorsch, M.F., additional
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- 2014
- Full Text
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49. Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
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Gregor, A, Albrecht, B, Bader, I, Bijlsma, E K, Ekici, A B, Engels, H, Hackmann, K, Horn, D, Hoyer, J, Klapecki, J, Kohlhase, J, Maystadt, I, Nagl, S, Prott, E, Tinschert, S, Ullmann, R, Wohlleber, E, Woods, G, Reis, A, Rauch, A, Zweier, C, Gregor, A, Albrecht, B, Bader, I, Bijlsma, E K, Ekici, A B, Engels, H, Hackmann, K, Horn, D, Hoyer, J, Klapecki, J, Kohlhase, J, Maystadt, I, Nagl, S, Prott, E, Tinschert, S, Ullmann, R, Wohlleber, E, Woods, G, Reis, A, Rauch, A, and Zweier, C
- Abstract
We report on patients with heterozygous defects in CNTNAP2 or NRXN1 associated with severe intellectual disability, which has only been reported for recessive defects before. These results expand the spectrum of phenotypic severity in patients with heterozygous defects in either gene. The large variability between severely affected patients and mildly affected or asymptomatic carrier parents might suggest the presence of a second hit, not necessarily located in the same gene.
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- 2011
50. Home Inotrope Therapy for Heart Failure, the Alfred Hospital Experience
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Bader, I., primary, MacFarlane, L., additional, Kaye, D., additional, Taylor, A., additional, Leet, A., additional, Hare, J., additional, and Bergin, P., additional
- Published
- 2013
- Full Text
- View/download PDF
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