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  1. Article: Frontonasal Encephalocele Complicated With Pseudotumor Cerebri: A Case Report and Literature Review.

    Hamad, Alaa / Alageel, Dalal F / Khan, Abdul Rahman / Joueidi, Faisal / Alyazidi, Anas S / Ismail, Atiah B / Spangenberg, Peter / Kanaan, Imaduddin

    Cureus

    2023  Volume 15, Issue 9, Page(s) e45509

    Abstract: Primary pseudotumor cerebri syndrome (PPTS) is a rare disorder of elevated intracranial pressure (ICP) in the absence of an identifiable underlying etiology. Afflicted patients are usually obese women in their reproductive age presenting with symptoms of ...

    Abstract Primary pseudotumor cerebri syndrome (PPTS) is a rare disorder of elevated intracranial pressure (ICP) in the absence of an identifiable underlying etiology. Afflicted patients are usually obese women in their reproductive age presenting with symptoms of elevated ICP. Seldom, patients can present with an encephalocele. We reported a case of a 31-year-old female who initially presented to our center with complaints of headaches, foreign body sensation in the nasal cavity, and decreased ability to smell. Brain computed tomography (CT) scan showed a large intranasal encephalocele and defect along the frontal skull base, through which brain tissue was herniating. The patient was successfully treated surgically by implantation of a lumboperitoneal shunt to manage the high ICP caused by her PPTS. In combination, reconstruction of the frontal skull base defect for the encephalocele was performed. Currently, the patient is doing well despite some on-and-off headaches.
    Language English
    Publishing date 2023-09-18
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2747273-5
    ISSN 2168-8184
    ISSN 2168-8184
    DOI 10.7759/cureus.45509
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Granular cell meningioma. A case report.

    Lach, Bolesław / Kanaan, Imaduddin

    Folia neuropathologica

    2007  Volume 45, Issue 1, Page(s) 19–22

    Abstract: We describe a granular cell tumour developing in clear cell meningioma of the falx. Granular and clear cells showed immunoreactivity for vimentin, epithelial membrane antigen and progesterone receptors. This is the first case documenting arachnoid origin ...

    Abstract We describe a granular cell tumour developing in clear cell meningioma of the falx. Granular and clear cells showed immunoreactivity for vimentin, epithelial membrane antigen and progesterone receptors. This is the first case documenting arachnoid origin of neoplastic granular cells in meningioma.
    MeSH term(s) Aged, 80 and over ; Granular Cell Tumor/metabolism ; Granular Cell Tumor/pathology ; Humans ; Immunohistochemistry ; Male ; Meningeal Neoplasms/metabolism ; Meningeal Neoplasms/pathology ; Meningioma/metabolism ; Meningioma/pathology ; Microscopy, Electron, Transmission
    Language English
    Publishing date 2007
    Publishing country Poland
    Document type Case Reports ; Journal Article
    ZDB-ID 1310363-5
    ISSN 1509-572X ; 1641-4640 ; 0028-3894
    ISSN (online) 1509-572X
    ISSN 1641-4640 ; 0028-3894
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  3. Article ; Online: Differential marker expression by cultures rich in mesenchymal stem cells.

    Wetzig, Andrew / Alaiya, Ayodele / Al-Alwan, Monther / Pradez, Christian Benedict / Pulicat, Manogaran S / Al-Mazrou, Amer / Shinwari, Zakia / Sleiman, Ghida Majed / Ghebeh, Hazem / Al-Humaidan, Hind / Gaafar, Ameera / Kanaan, Imaduddin / Adra, Chaker

    BMC cell biology

    2013  Volume 14, Page(s) 54

    Abstract: Background: Mesenchymal stem cells have properties that make them amenable to therapeutic use. However, the acceptance of mesenchymal stem cells in clinical practice requires standardized techniques for their specific isolation. To date, there are no ... ...

    Abstract Background: Mesenchymal stem cells have properties that make them amenable to therapeutic use. However, the acceptance of mesenchymal stem cells in clinical practice requires standardized techniques for their specific isolation. To date, there are no conclusive marker (s) for the exclusive isolation of mesenchymal stem cells. Our aim was to identify markers differentially expressed between mesenchymal stem cell and non-stem cell mesenchymal cell cultures. We compared and contrasted the phenotype of tissue cultures in which mesenchymal stem cells are rich and rare. By initially assessing mesenchymal stem cell differentiation, we established that bone marrow and breast adipose cultures are rich in mesenchymal stem cells while, in our hands, foreskin fibroblast and olfactory tissue cultures contain rare mesenchymal stem cells. In particular, olfactory tissue cells represent non-stem cell mesenchymal cells. Subsequently, the phenotype of the tissue cultures were thoroughly assessed using immuno-fluorescence, flow-cytometry, proteomics, antibody arrays and qPCR.
    Results: Our analysis revealed that all tissue cultures, regardless of differentiation potential, demonstrated remarkably similar phenotypes. Importantly, it was also observed that common mesenchymal stem cell markers, and fibroblast-associated markers, do not discriminate between mesenchymal stem cell and non-stem cell mesenchymal cell cultures. Examination and comparison of the phenotypes of mesenchymal stem cell and non-stem cell mesenchymal cell cultures revealed three differentially expressed markers - CD24, CD108 and CD40.
    Conclusion: We indicate the importance of establishing differential marker expression between mesenchymal stem cells and non-stem cell mesenchymal cells in order to determine stem cell specific markers.
    MeSH term(s) Adipose Tissue/cytology ; Adipose Tissue/metabolism ; Antigens, CD/genetics ; Antigens, CD/metabolism ; Biomarkers/metabolism ; Bone Marrow Cells/cytology ; Bone Marrow Cells/metabolism ; CD24 Antigen/genetics ; CD24 Antigen/metabolism ; CD40 Antigens/genetics ; CD40 Antigens/metabolism ; Cell Differentiation ; Cells, Cultured ; Female ; Fibroblasts/cytology ; Fibroblasts/metabolism ; Foreskin/cytology ; Foreskin/metabolism ; GPI-Linked Proteins/genetics ; GPI-Linked Proteins/metabolism ; Gene Expression ; Gene Expression Profiling ; Humans ; Immunophenotyping ; Male ; Mammary Glands, Human/cytology ; Mammary Glands, Human/metabolism ; Mesenchymal Stem Cells/cytology ; Mesenchymal Stem Cells/metabolism ; Semaphorins/genetics ; Semaphorins/metabolism
    Chemical Substances Antigens, CD ; Biomarkers ; CD24 Antigen ; CD40 Antigens ; GPI-Linked Proteins ; SEMA7A protein, human ; Semaphorins
    Language English
    Publishing date 2013-12-05
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1471-2121
    ISSN (online) 1471-2121
    DOI 10.1186/1471-2121-14-54
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  4. Article: Severe hypertension secondary to renal artery stenosis and Cushing's syndrome.

    Alzahrani, Ali S / Al-Hajjaj, Alya / Al-Watban, Jehad / Kanaan, Imaduddin

    Saudi medical journal

    2005  Volume 26, Issue 4, Page(s) 668–673

    Abstract: We present an unusual patient who simultaneously had severe renal artery stenosis RAS and Cushing's syndrome. The case highlights the difficulty of reaching a specific diagnosis of Cushing's syndrome and the possible interaction between Cushing's ... ...

    Abstract We present an unusual patient who simultaneously had severe renal artery stenosis RAS and Cushing's syndrome. The case highlights the difficulty of reaching a specific diagnosis of Cushing's syndrome and the possible interaction between Cushing's syndrome and some other concurrent illnesses that this patient had. A 37-year old man presented with severe hypertension HTN and uncontrolled diabetes mellitus DM without clear physical signs of Cushing's syndrome. He was found to have severe osteoporosis, proximal myopathy, several cutaneous warts, tinea versicolor, and chronic viral hepatitis. Captopril-stimulated renal scan and renal artery angiogram revealed severe RAS. Partial balloon dilatation of RAS led to improvement in HTN. Unexpectedly, urine free cortisol 24 hour was found extremely high. Serum adrenocorticotropic hormone ACTH was also elevated and high dose dexamethasone suppression tests were inconclusive. Several imaging studies failed to localize the source of ACTH. Despite normal MRI of the pituitary gland, bilateral inferior petrosal sinus sampling IPSS localized the source of ACTH secretion to the right side of the pituitary gland and right anterior hemihypophysectomy resulted in cure of Cushing's disease, HTN, DM, and tinea versicolor with significant improvement in cutaneous warts, osteoporosis, and chronic hepatitis. In conclusion, RAS and Cushing's syndrome may occur together. Significant hypercortisolemia can occur without clear signs of Cushing's syndrome. Controlling hypercortisolemia is of paramount importance when treating chronic infections in patients with Cushing's syndrome.
    MeSH term(s) Adrenocorticotropic Hormone/blood ; Adult ; Cushing Syndrome/complications ; Humans ; Hydrocortisone/urine ; Hypertension/complications ; Middle Aged ; Renal Artery Obstruction/complications
    Chemical Substances Adrenocorticotropic Hormone (9002-60-2) ; Hydrocortisone (WI4X0X7BPJ)
    Language English
    Publishing date 2005-04
    Publishing country Saudi Arabia
    Document type Case Reports ; Journal Article
    ZDB-ID 392302-2
    ISSN 1658-3175 ; 0379-5284
    ISSN (online) 1658-3175
    ISSN 0379-5284
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  5. Article: Repeated remissions of Cushing's disease due to recurrent infarctions of an ACTH-producing pituitary macroadenoma.

    Alarifi, Abdullah / Alzahrani, Ali S / Salam, Suzan Abdel / Ahmed, Mohammed / Kanaan, Imaduddin

    Pituitary

    2005  Volume 8, Issue 2, Page(s) 81–87

    Abstract: Infarction of prolactin-secreting or growth hormone-secreting pituitary adenomas is not unusual. However, Infarction of ACTH-secreting adenomas has rarely been reported. Cyclical course of Cushing's syndrome alternating with adrenal insufficiency due to ... ...

    Abstract Infarction of prolactin-secreting or growth hormone-secreting pituitary adenomas is not unusual. However, Infarction of ACTH-secreting adenomas has rarely been reported. Cyclical course of Cushing's syndrome alternating with adrenal insufficiency due to recurrent infarction of an ACTH-secreting pituitary adenoma has not been reported. We report here a 20-year-old lady who presented with florid signs of Cushing's syndrome but was found to have adrenal insufficiency on biochemical evaluation. Magnetic resonance imaging (MRI) of the pituitary gland showed that she had infarction of an ACTH-secreting macroadenoma. Over the next 6 years, her disease ran a cyclical course characterized by periods of hypercortisolism alternating with adrenal insufficiency due to repeated episodes of infarctions of the ACTH-secreting pituitary macroadenoma with corresponding changes in the pituitary adenoma on serial MRIs. The case alerts clinicians to this possibility when a patient presents with clinical picture of Cushing's syndrome but has adrenal insufficiency on biochemical testing. It also suggests that silent or subclinical infarction of pituitary adenomas is not uncommon and is probably under diagnosed.
    MeSH term(s) Adenoma/blood supply ; Adenoma/diagnosis ; Adenoma/secretion ; Adrenocorticotropic Hormone/secretion ; Adult ; Female ; Humans ; Infarction/physiopathology ; Magnetic Resonance Imaging ; Pituitary ACTH Hypersecretion/diagnosis ; Pituitary ACTH Hypersecretion/physiopathology ; Pituitary Neoplasms/blood supply ; Pituitary Neoplasms/diagnosis ; Pituitary Neoplasms/secretion ; Remission, Spontaneous
    Chemical Substances Adrenocorticotropic Hormone (9002-60-2)
    Language English
    Publishing date 2005
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 1385151-2
    ISSN 1573-7403 ; 1386-341X
    ISSN (online) 1573-7403
    ISSN 1386-341X
    DOI 10.1007/s11102-005-2961-8
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  6. Article: Optic gliomas: a retrospective analysis of 50 cases.

    Khafaga, Yasser / Hassounah, Maher / Kandil, Alaa / Kanaan, Imaduddin / Allam, Ayman / El Husseiny, Gamal / Kofide, Amani / Belal, Abdulaziz / Al Shabanah, Mohammed / Schultz, Henrik / Jenkin, Derek

    International journal of radiation oncology, biology, physics

    2003  Volume 56, Issue 3, Page(s) 807–812

    Abstract: Purpose: Gliomas of the optic pathways are rare childhood central nervous system tumors. The treatment approach is controversial because of its rarity and the slow and unpredictable growth rates of these lesions.: Methods and materials: We reviewed ... ...

    Abstract Purpose: Gliomas of the optic pathways are rare childhood central nervous system tumors. The treatment approach is controversial because of its rarity and the slow and unpredictable growth rates of these lesions.
    Methods and materials: We reviewed 50 patients with the diagnosis of optic pathway low-grade gliomas treated between January 1980 and December 1995 at King Faisal Specialist Hospital and Research Center, Saudi Arabia. Thirty-five patients presented with chiasmatic/hypothalamic (posterior tumors), and 15 with optic nerve gliomas with or without chiasmal involvement (anterior tumors). Evidence of neurofibromatosis was present in 18 patients. Twenty-nine patients underwent surgery (total or partial resection), and 12 of these received postoperative radiotherapy (RT). Sixteen patients were treated with primary RT. The radiation dose varied between 42 and 54 Gy (median dose 50).
    Results: The overall actuarial survival rate was 87.5% at 5 years and 75% at 10 years, and the corresponding progression-free survival (PFS) rates were 69% and 62%. Patients with anterior tumors fared better than those with posterior tumors, with a 10-year PFS rate of 72% and 58%, respectively; the difference, however, was not statistically significant (p = 0.58). A PFS advantage was found in favor of patients with posterior tumors treated with RT (primary or postoperative) compared with no RT, with 5-year PFS rates of 68% vs. 42% (p = 0.03). This, however, did not translate into a survival advantage because of the success of salvage treatment.
    Conclusion: In multivariate analysis, age (<3 vs. >3 years) emerged as the only significant determinant for PFS with patients <3 years old faring worse (p = 0.03). Neurologic and endocrine dysfunction are significant problems that need to be addressed.
    MeSH term(s) Adolescent ; Adult ; Analysis of Variance ; Child ; Child, Preschool ; Combined Modality Therapy ; Disease Progression ; Disease-Free Survival ; Female ; Humans ; Male ; Optic Nerve Glioma/mortality ; Optic Nerve Glioma/therapy ; Retrospective Studies ; Survival Rate ; Time Factors ; Vision, Ocular
    Language English
    Publishing date 2003-07-01
    Publishing country United States
    Document type Journal Article
    ZDB-ID 197614-x
    ISSN 1879-355X ; 0360-3016
    ISSN (online) 1879-355X
    ISSN 0360-3016
    DOI 10.1016/s0360-3016(02)04512-1
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  7. Article ; Online: Cerebrospinal Fluid Content of Manganese, Platinum, and Strontium in Patients with Cerebral Tumors, Leukemia, and Other Noncerebral Neoplasms

    El-Yazigi, Adnan / Kanaan, Imaduddin / Martin, Cazemiro R. / Siqueira, Edir B.

    Oncology - International Journal of Cancer Research and Treatment

    1990  Volume 47, Issue 5, Page(s) 385–388

    Abstract: Electrothermal atomic absorption spectrophotometry was employed to measure the concentrations of manganese, platinum, and strontium in the cerebrospinal fluid (CSF) of 47 patients with brain neoplasms (34 benign and 13 malignant), 17 leukemic patients, ... ...

    Abstract Electrothermal atomic absorption spectrophotometry was employed to measure the concentrations of manganese, platinum, and strontium in the cerebrospinal fluid (CSF) of 47 patients with brain neoplasms (34 benign and 13 malignant), 17 leukemic patients, 10 patients with lymphoma or non-cerebral solid tumors, and 27 control patients. According to the data obtained, manganese appears to be significantly (p <0.015) depleted from the CSF of leukemic patients, whereas platinum is diminished in CSF of patients with brain tumors, leukemia, lymphoma, or noncerebral solid tumors; the ratios for the mean CSF concentration of platinum in these tumor patients/control patients ranged between 0.52 and 0.7. There was no significant difference in CSF concentrations of strontium among the groups examined.
    Keywords Trace elements ; Electrothermal atomic absorption ; Cerebral tumors ; Leukemia ; Lymphoma
    Language English
    Publisher S. Karger AG
    Publishing place Basel
    Publishing country Switzerland
    Document type Article ; Online
    ZDB-ID 250101-6
    ISSN 1423-0232 ; 0030-2414 ; 0030-2414
    ISSN (online) 1423-0232
    ISSN 0030-2414
    DOI 10.1159/000226853
    Database Karger publisher's database

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  8. Article ; Online: The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

    Monies, Dorota / Abouelhoda, Mohamed / AlSayed, Moeenaldeen / Alhassnan, Zuhair / Alotaibi, Maha / Kayyali, Husam / Al-Owain, Mohammed / Shah, Ayaz / Rahbeeni, Zuhair / Al-Muhaizea, Mohammad A / Alzaidan, Hamad I / Cupler, Edward / Bohlega, Saeed / Faqeih, Eissa / Faden, Maha / Alyounes, Banan / Jaroudi, Dyala / Goljan, Ewa / Elbardisy, Hadeel /
    Akilan, Asma / Albar, Renad / Aldhalaan, Hesham / Gulab, Shamshad / Chedrawi, Aziza / Al Saud, Bandar K / Kurdi, Wesam / Makhseed, Nawal / Alqasim, Tahani / El Khashab, Heba Y / Al-Mousa, Hamoud / Alhashem, Amal / Kanaan, Imaduddin / Algoufi, Talal / Alsaleem, Khalid / Basha, Talal A / Al-Murshedi, Fathiya / Khan, Sameena / Al-Kindy, Adila / Alnemer, Maha / Al-Hajjar, Sami / Alyamani, Suad / Aldhekri, Hasan / Al-Mehaidib, Ali / Arnaout, Rand / Dabbagh, Omar / Shagrani, Mohammad / Broering, Dieter / Tulbah, Maha / Alqassmi, Amal / Almugbel, Maisoon / AlQuaiz, Mohammed / Alsaman, Abdulaziz / Al-Thihli, Khalid / Sulaiman, Raashda A / Al-Dekhail, Wajeeh / Alsaegh, Abeer / Bashiri, Fahad A / Qari, Alya / Alhomadi, Suzan / Alkuraya, Hisham / Alsebayel, Mohammed / Hamad, Muddathir H / Szonyi, Laszlo / Abaalkhail, Faisal / Al-Mayouf, Sulaiman M / Almojalli, Hamad / Alqadi, Khalid S / Elsiesy, Hussien / Shuaib, Taghreed M / Seidahmed, Mohammed Zain / Abosoudah, Ibraheem / Akleh, Hana / AlGhonaium, Abdulaziz / Alkharfy, Turki M / Al Mutairi, Fuad / Eyaid, Wafa / Alshanbary, Abdullah / Sheikh, Farrukh R / Alsohaibani, Fahad I / Alsonbul, Abdullah / Al Tala, Saeed / Balkhy, Soher / Bassiouni, Randa / Alenizi, Ahmed S / Hussein, Maged H / Hassan, Saeed / Khalil, Mohamed / Tabarki, Brahim / Alshahwan, Saad / Oshi, Amira / Sabr, Yasser / Alsaadoun, Saad / Salih, Mustafa A / Mohamed, Sarar / Sultana, Habiba / Tamim, Abdullah / El-Haj, Moayad / Alshahrani, Saif / Bubshait, Dalal K / Alfadhel, Majid / Faquih, Tariq / El-Kalioby, Mohamed / Subhani, Shazia / Shah, Zeeshan / Moghrabi, Nabil / Meyer, Brian F / Alkuraya, Fowzan S

    Human genetics

    2017  Volume 136, Issue 8, Page(s) 921–939

    Abstract: In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian phenotypes. A total of 1019 tests were performed in the period ...

    Abstract In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian phenotypes. A total of 1019 tests were performed in the period of March 2016-December 2016 comprising 972 solo (index only), 14 duo (parents or affected siblings only), and 33 trio (index and parents). Multigene panels accounted for 672 tests, while whole exome sequencing (WES) represented the remaining 347 tests. Pathogenic or likely pathogenic variants that explain the clinical indications were identified in 34% (27% in panels and 43% in exomes), spanning 279 genes and including 165 novel variants. While recessive mutations dominated the landscape of solved cases (71% of mutations, and 97% of which are homozygous), a substantial minority (27%) were solved on the basis of dominant mutations. The highly consanguineous nature of the study population also facilitated homozygosity for many private mutations (only 32.5% of the recessive mutations are founder), as well as the first instances of recessive inheritance of previously assumed strictly dominant disorders (involving ITPR1, VAMP1, MCTP2, and TBP). Surprisingly, however, dual molecular diagnosis was only observed in 1.5% of cases. Finally, we have encountered candidate variants in 75 genes (ABHD6, ACY3, ADGRB2, ADGRG7, AGTPBP1, AHNAK2, AKAP6, ASB3, ATXN1L, C17orf62, CABP1, CCDC186, CCP110, CLSTN2, CNTN3, CNTN5, CTNNA2, CWC22, DMAP1, DMKN, DMXL1, DSCAM, DVL2, ECI1, EP400, EPB41L5, FBXL22, GAP43, GEMIN7, GIT1, GRIK4, GRSF1, GTRP1, HID1, IFNL1, KCNC4, LRRC52, MAP7D3, MCTP2, MED26, MPP7, MRPS35, MTDH, MTMR9, NECAP2, NPAT, NRAP, PAX7, PCNX, PLCH2, PLEKHF1, PTPN12, QKI, RILPL2, RIMKLA, RIMS2, RNF213, ROBO1, SEC16A, SIAH1, SIRT2, SLAIN2, SLC22A20, SMDT1, SRRT, SSTR1, ST20, SYT9, TSPAN6, UBR4, VAMP4, VPS36, WDR59, WDYHV1, and WHSC1) not previously linked to human phenotypes and these are presented to accelerate post-publication matchmaking. Two of these genes were independently mutated in more than one family with similar phenotypes, which substantiates their link to human disease (AKAP6 in intellectual disability and UBR4 in early dementia). If the novel candidate disease genes in this cohort are independently confirmed, the yield of WES will have increased to 83%, which suggests that most "negative" clinical exome tests are unsolved due to interpretation rather than technical limitations.
    MeSH term(s) Consanguinity ; Exome ; Female ; Genetic Diseases, Inborn/diagnosis ; Genetic Diseases, Inborn/epidemiology ; Genetic Testing ; Genome, Human ; High-Throughput Nucleotide Sequencing ; Homozygote ; Humans ; Male ; Molecular Sequence Annotation ; Morbidity ; Mutation ; Phenotype ; Reproducibility of Results ; Saudi Arabia/epidemiology ; Sequence Analysis, DNA
    Language English
    Publishing date 2017-06-09
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 223009-4
    ISSN 1432-1203 ; 0340-6717
    ISSN (online) 1432-1203
    ISSN 0340-6717
    DOI 10.1007/s00439-017-1821-8
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