Biomedical subjects
Fadi Haddad
Publications and source records attributed to Fadi Haddad.
Images in cardiovascular medicine. Extracardiac unruptured sinus of Valsalva, coronary, and intracranial aneurysms.
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Molecular basis of oculocutaneous albinism type 1 in Lebanese patients.
Oculocutaneous albinism type 1 (OCA1) results from mutations in the tyrosinase gene, which lead to partial or complete loss of activity of the corresponding enzyme. A large number of mutations have been identified worldwide, providing insight into the pathogenesis of the disorder. We performed ophthalmic and dermatological exams on 30 Lebanese subjects with oculocutaneous albinism, then screened for mutations in the tyrosinase gene in an effort to establish the molecular basis of the disorder in our population and correlate it with phenotypic findings. The five exons of the gene together with the exon-intron boundaries and part of the promoter region were sequenced. Mutations were found in a total of 14 patients (47%) while no mutation was identified in the sequenced regions in 53% of patients. Fourteen different mutations were identified of which eight were novel while six had been previously reported. Mutations were mainly seen in patients with clinical findings, suggestive of OCA1A (64% of patients with OCA1A versus 25% of patients with OCA1B); therefore, the absence of mutations in some of the other patients may indicate the involvement of other genes.
Recurrent Legg-Calvé-Perthes disease revisited: fake or reality?
The objective of this study was to assess the course, the epidemiologic features and the prognosis of recurrent Legg-Calvé-Perthes disease. We reviewed seven reported cases and one personal case of recurrent Perthes' disease. In all cases, complete recovery from the previous episode was documented, and a thorough diagnostic work-up to rule out other diseases was undertaken. There were five boys. Age at onset ranged from 2 to 6 years. Five patients had bilateral involvement. Recurrence took place 1-5 years after complete healing of the initial one. Clinical and radiological pictures were similar to those found in primary Perthes' disease of the adolescent and consisted in a greater epiphyseal involvement. Recurrent Perthes' disease is very rare. We did not identify any risk factors for recurrence. A worse outcome is more closely related to an older age of the patient at recurrence than to recurrence itself.
Tumor associated antigen recognition by autologous serum in patients with breast cancer.
Breast cancer accounts for 30-40% of all deaths from cancers in females. In an effort to identify tumor associated antigens that may be useful for immunotherapy, we utilized serological analysis of recombinant cDNA expression libraries (SEREX) technique to identify breast cancer-associated antigens. SEREX screening of cDNA expression libraries derived from 3 breast cancer patients identified a total of 88 positive clones (bcg-1 to bcg-88), including 27 hitherto unknown sequences. The cDNA sequences and mRNA expression patterns were characterized. Seroreactivity of the SEREX clones were determined in sera from 75 breast cancer patients, 75 colon cancer patients, and 25 healthy donors. Expression analysis on a cDNA panel from 17 different normal tissues by reverse transcription-PCR (RT-PCR) revealed tissue restricted mRNA expression of 2 of the 27 unknown antigens. Bcg-72 is expressed only in breast, prostate and thymus, while bcg-84 is expressed at moderate levels in testis, spleen and breast. The other 25 unknown antigens were expressed in most other tissues. Serologic assay revealed that 7 out of the 88 clones showed reactivity to at least one serum from either 75 breast or 75 colon cancer patients. These clones did not react with sera from a panel of 25 healthy adult individuals. Our results demonstrate the utility of the SEREX approach for the identification of potential tumor associated antigens in human breast cancer.
[Utility of endoscopic ultrasonography on localization of insulinomas. Case report and review of the literature].
Insulinoma is the most common endocrine tumors of the pancreas. The diagnosis is suspected by clinical symptoms and confirmed by biologic tests. Because the majority of insulinomas have a small size, the real problem is the localization of these tumors. The non invasive radiologic exams (US, CT Scan, angiography or RMI) are not sensitive for the topographic localization of insulinomas. The invasive exams like per operative US and palpation of the parenchyma or dosage of insulin by transhepatic catheterization of portal vein or in hepatic vein after intrarterial stimulation are very sensitive. The only noninvasive preoperative exam with high sensitivity to localize insulinomas is endoscopic ultrasonography (EUS). We report a case of insulinoma localized by EUS with review of the literature.
Cutaneous leishmaniasis in two siblings.
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