Faisal Joueidi
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View article: Homozygous α-Spectrin (SPTA1) Variant Causing Persistent Hereditary Pyropoikilocytosis in a Newborn: A Case Report and Literature Review
Homozygous α-Spectrin (SPTA1) Variant Causing Persistent Hereditary Pyropoikilocytosis in a Newborn: A Case Report and Literature Review Open
Hereditary pyropoikilocytosis is an inherited, rare form of severe hemolytic anemia that is associated with a disordered erythrocyte membrane. Such a disordered membrane is due to the quantitative and qualitative α-spectrin defects that as…
View article: Evaluation of the effectiveness of contrast-enhanced ultrasound in the diagnosis of early hepatocellular carcinoma: a systematic review
Evaluation of the effectiveness of contrast-enhanced ultrasound in the diagnosis of early hepatocellular carcinoma: a systematic review Open
Objectives To investigate the evaluation of the effectiveness of contrast-enhanced ultrasound (CEUS) in the diagnosis of small hepatocellular carcinoma (HCC). Methods A thorough search was conducted for pertinent literature using PubMed, S…
View article: The Outcome of Conservative Management and Endovascular Embolization for Spontaneous Intra-abdominal Hemorrhage: A Retrospective Study of Cases from 2016 to 2022
The Outcome of Conservative Management and Endovascular Embolization for Spontaneous Intra-abdominal Hemorrhage: A Retrospective Study of Cases from 2016 to 2022 Open
Aim: This retrospective study aimed to evaluate the effectiveness of different management strategies for such patients and explore the clinical outcomes related to these treatments. Methods: This was a retrospective study that included a t…
View article: First case of primary CNS lymphoma in a patient with severe combined immunodeficiency carrying a novel ZAP70 mutation: a case report
First case of primary CNS lymphoma in a patient with severe combined immunodeficiency carrying a novel ZAP70 mutation: a case report Open
Introduction: Zeta-chain-associated protein kinase 70 ( ZAP70 ) is a tyrosine kinase that plays a crucial role in T-cell activation via the T-cell receptor/CD3 complex and contributes to B-cell signaling. ZAP70 variants can cause a range o…
View article: Pycnodysostosis: a case series of eight Saudi patients with cathepsin K gene mutation and a literature review
Pycnodysostosis: a case series of eight Saudi patients with cathepsin K gene mutation and a literature review Open
Pycnodysostosis, a rare osteopetrosis subtype, is mainly caused by homozygous or compound heterozygous biallelic pathogenic mutation of the cathepsin K ( CTSK ) gene. The cohort included eight patients (four males and four females) with a …
View article: Balloon dilatation for failed pyeloplasty is it a valid alternate option in pediatric age group: A comparative retrospective study
Balloon dilatation for failed pyeloplasty is it a valid alternate option in pediatric age group: A comparative retrospective study Open
Introduction: In pediatric patients, the preferred intervention following a failed pyeloplasty is a surgical challenge. Balloon dilatation is a minimally invasive option with low complication rates. However, redo-pyeloplasty provides worka…
View article: Cannabinoids-Induced Rhabdomyolysis in a Patient: A Report of a Case and a Review of Literature
Cannabinoids-Induced Rhabdomyolysis in a Patient: A Report of a Case and a Review of Literature Open
Rhabdomyolysis is a life-threatening complication and is sometimes, though rarely, induced by the use of synthetic cannabinoids. The pathophysiology is poorly understood. However, the effect is through the activation of G-protein coupled r…
View article: Pregnancy Outcomes in Women with Low and Ultra-Low Ejection Fraction: A Retrospective Study in a Tertiary Care Center
Pregnancy Outcomes in Women with Low and Ultra-Low Ejection Fraction: A Retrospective Study in a Tertiary Care Center Open
The data about pregnancy while having a low ejection fraction are scarce, since pregnancy is not recommended for women with an ejection fraction of less than 30%. There is an increased risk of obstetrical complications and adverse maternal…
View article: Bell’s palsy characteristics, clinical manifestations, complications, and prognosis in a primary care setting, a single center study: A retrospective cohort study
Bell’s palsy characteristics, clinical manifestations, complications, and prognosis in a primary care setting, a single center study: A retrospective cohort study Open
A BSTRACT Background: Bell’s palsy (BP) is a cranial nerve disorder in which unilateral or bilateral paralysis of the facial nerve occurs. The study aims to study BP’s characteristics, including its clinical manifestations, prognosis, and …
View article: Transjugular Intrahepatic Portosystemic Shunt for Budd–Chiari Syndrome: A Single-Centre Experience
Transjugular Intrahepatic Portosystemic Shunt for Budd–Chiari Syndrome: A Single-Centre Experience Open
Background: Despite several challenges in clinical management, there has been significant progress in understanding the aetiology, natural history and outcomes of Budd–Chiari syndrome (BCS) treatments. This study aims to evaluate the outco…
View article: Migrated toothpick causing a hepatic abscess with portal vein thrombosis: A case report and review of literature
Migrated toothpick causing a hepatic abscess with portal vein thrombosis: A case report and review of literature Open
Key Clinical Message Accidental foreign body ingestion is the most common hidden cause of abdominal pain. A high index of suspicion should be implemented in patients with unresolved abdominal pain. Here we reported a 54‐year‐old patient wi…
View article: Biallelic HMGXB4 loss-of-function variant causes intellectual disability, developmental delay, and dysmorphic features
Biallelic HMGXB4 loss-of-function variant causes intellectual disability, developmental delay, and dysmorphic features Open
The current study is the first evidence linking a genetic variant in the HMGXB4 gene to ID, GDD, and dysmorphic facial features. Therefore, it is possible that HMGXB4 contributes significantly to developmental milestones and …
View article: Clinical characteristics and long-term management for patients with vitamin D-dependent rickets type II: a retrospective study at a single center in Saudi Arabia
Clinical characteristics and long-term management for patients with vitamin D-dependent rickets type II: a retrospective study at a single center in Saudi Arabia Open
Introduction Hereditary Vitamin D-dependent rickets type II (HVDDR-type II) is a rare autosomal recessive disorder caused by molecular variation in the gene encoding the vitamin D receptor (VDR). This study aims to evaluate phenotype and g…
View article: Clinical Manifestations of Pseudohypoaldosteronism with Genotype-phenotype Correlation. A Single Center Experience, A Retrospective Cohort Study.
Clinical Manifestations of Pseudohypoaldosteronism with Genotype-phenotype Correlation. A Single Center Experience, A Retrospective Cohort Study. Open
Background: Pseudohypoaldosteronism (PHA) is a rare endocrine disorder characterized by unresponsiveness, multi-organ involvement affecting sodium salt wasting, poor renal excretion, and severe volume depletion resulting in electrolyte imb…
View article: Open repair of transverse cervical pseudoaneurysm
Open repair of transverse cervical pseudoaneurysm Open
A 40-year-old woman was referred to the vascular surgery clinic complaining of right shoulder pain and swelling secondary to blunt trauma 4 months ago. Computed tomography angiography showed a partially thrombosed supraclavicular pseudoane…
View article: Explorative laparotomy of cecal volvulus in a pediatric patient. A case report and review of literature
Explorative laparotomy of cecal volvulus in a pediatric patient. A case report and review of literature Open
View article: The Outcome of Conservative and Endovascular Embolization of Spontaneous Intra-abdominal Bleeding Related to Anticoagulants/Antiplatelets
The Outcome of Conservative and Endovascular Embolization of Spontaneous Intra-abdominal Bleeding Related to Anticoagulants/Antiplatelets Open
View article: The Endoscopic Resection of Sellar and Suprasellar Epidermoid Cyst in a Pediatric Patient: A Case Report and Review of the Literature
The Endoscopic Resection of Sellar and Suprasellar Epidermoid Cyst in a Pediatric Patient: A Case Report and Review of the Literature Open
View article: Frontonasal Encephalocele Complicated With Pseudotumor Cerebri: A Case Report and Literature Review
Frontonasal Encephalocele Complicated With Pseudotumor Cerebri: A Case Report and Literature Review Open
View article: Transverse testicular ectopia: two case reports and literature review
Transverse testicular ectopia: two case reports and literature review Open
View article: Continuous supernumerary teeth development in cleidocranial dysplasia post-surgical extraction – A novel case report
Continuous supernumerary teeth development in cleidocranial dysplasia post-surgical extraction – A novel case report Open
The diagnosis of Cleidocranial dysplasia is approached via clinical features, genetic testing, and imaging. CCD includes delayed or non-closure of cranial sutures the presence of bulging anterior fontanelle and multiple supernumerary teeth…
View article: Antithyroid Drugs in the Management of Graves' Disease: A Friend and Foe
Antithyroid Drugs in the Management of Graves' Disease: A Friend and Foe Open
Graves' disease is an autoimmune condition in which the patient develops autoantibodies that stimulate the thyroid gland, leading to thyrotoxicosis. We report the case of a 29-year-old female who presented one month postpartum with typical…