A5027075413- Genomics and Rare Diseases
- Connective tissue disorders research
- Genetic Syndromes and Imprinting
- Radiology practices and education
- Congenital Ear and Nasal Anomalies
- Neurogenetic and Muscular Disorders Research
- Genomic variations and chromosomal abnormalities
- Medical Imaging and Pathology Studies
- Clinical Reasoning and Diagnostic Skills
- Antifungal resistance and susceptibility
- Fungal Infections and Studies
- Genetic factors in colorectal cancer
- Abdominal vascular conditions and treatments
- Anorectal Disease Treatments and Outcomes
- Abdominal Surgery and Complications
- Colorectal Cancer Surgical Treatments
- Epigenetics and DNA Methylation
- Pneumocystis jirovecii pneumonia detection and treatment
- Congenital heart defects research
- Vascular Malformations Diagnosis and Treatment
- COVID-19 and healthcare impacts
- Artificial Intelligence in Healthcare and Education
- Vascular anomalies and interventions
- Tuberous Sclerosis Complex Research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
Lebanese American University
2021-2024
University Medical Center Rizk Hospital
2009-2024
Lebanese University
2020
Polycythemia vera (PV) is a common cause of Budd-Chiari syndrome (BCS) and portal vein thrombosis (PVT). The postpartum period precipitating cofactor. An additional heparin-induced thrombocytopenia/thrombosis (HIT/T) leads to life-threatening condition in which transjugular intrahepatic portosystemic shunting (TIPS) seems be the only life-saving procedure. We describe case subacute BCS PVT late period. diagnosis was established using CT scan, MRI, Doppler ultrasonography abdominal vessels...
We report on 2 cousins, a girl and boy, born to first-cousin Lebanese parents with Hamamy syndrome, exhibiting developmental delay, intellectual disability, severe telecanthus, abnormal ears, dentinogenesis imperfecta, bone fragility. Whole-exome sequencing studies performed the affected individuals one obligate carrier revealed presence of homozygous c.503G>A (p.Arg168His) missense mutation in IRX5 both sibs, not reported any other family. Review literature differential diagnoses are discussed.
Overgrowth syndromes are a heterogeneous group of genetic disorders characterized by excessive growth, often accompanied additional clinical features, such as facial dysmorphism, hormonal imbalances, cognitive impairment, and increased risk for neoplasia. Moreno-Nishimura-Schmidt (M-N-S) overgrowth syndrome is very rare severe pre- postnatal overgrowth, dysmorphic kyphoscoliosis, large hands feet, inguinal hernia, distinctive skeletal features. The radiological features the disorder have...
Here we report the case of a young boy with developmental delay, thin sparse hair, early closure anterior fontanel, bilateral choanal atresia, brachyturicephaly; and dysmorphic features closely resembling those seen in trichorhinophalangeal syndrome (TRPS). These include lateral eyebrows, bulbous pear shaped nose, long philtrum, lips, small/hypoplastic nails, pes planovalgus; cone-shaped epiphyses at proximal 5th phalanx, slender bones, coxa valga, mild scoliosis, delayed bone age. Given...
Introduction: Blended phenotypes resulting from the contribution of two or more genetic variants to disease a patient pose significant diagnostic challenge. Correlating between and genotypes affected patients is difficult in these cases, especially absence large family segregating condition. Case Presentation: We report child born consanguineous Syrian parents with complex phenotype including skeletal dysplasia, characterized by small thorax phalangeal shortening, as well cardiac anomalies...
Background: Hepatic portal venous gas (HPVG) has rarely been described in the presence of benign, non-life-threatening conditions such as gastric emphysema and dilatation. In cases, management patient prognosis have evolved to become highly dependent on etiology. Nevertheless, although can be benign conservative applied, close monitoring patient’s status is necessary avoid any complication like necrosis. Case Presentation: We report a case acute dilatation with HPVG closed loop small bowel...
An unprecedented sanitary challenge is threatening human beings due to COVID-19 pandemic. There no light at the end of tunnel concerning treatment and worries from a possible second wave start arise even before first one. We conducted multicenter study reassess different aspects radiology departments’ preparedness in Lebanon stating points strength more importantly depicting weakness. Lessons were then extracted be prepared for future similar circumstances.