Improving Hemophilia Care in Low- and Middle-Income Countries: Addressing Challenges and Enhancing Quality of Life.

Hemophilia, a genetic bleeding disorder caused by a deficiency in clotting factors, impacts millions of people worldwide. The quality of life (QoL) for those affected remains particularly suboptimal in low- and middle-income countries (LMICs). This article delves into the unmet needs in hemophilia care and management in LMICs, spotlighting various challenges and potential strategies for improvement.

Dysphagia lusoria caused by aberrant right subclavian artery associated with truncus bicaroticus in an 8-month-old girl. Case report and review of literature.

Dysphagia lusoria is a rare pediatric condition caused by extrinsic compression of the esophagus by an abnormal subclavian artery. The most common congenital abnormality in aortic arch development is an aberrant right subclavian artery. The retroesophageal right subclavian artery is typically symptomatic in 10-33% of cases.

Skeletal Manifestations, Bone Pain, and BMD Changes in Albanian Type 1 Gaucher Patients Treated with Taliglucerase Alfa.

Gaucher disease is a rare, genetic lysosomal disorder leading to lipid accumulation and dysfunctions in multiple organs. Bone involvement is one of the most prevalent aspects of Gaucher disease. Pain, disability, and reduced quality of life remain the most frequent characteristics of bone involvement in Gaucher patients.

Congenital Hepatic Fibrosis as an Early Sign of Presentation of ADPKD.

Autosomal dominant polycystic kidney disease (ADKPD) is the most frequent type of polycystic kidney disease. It is inherited through family members, with an incidence of approximately 1:400 to1:1000.Typically, individuals with ADKPD are identified between their fourth and fifth decade of life.

Early and Long-Term Clinical and Echocardiographic Outcomes of Sutureless vs. Sutured Bioprosthesis for Aortic Valve Replacement.

: The goal of this manuscript is to compare clinical and echocardiographic outcomes of patients undergoing aortic valve replacement (AVR) with Perceval sutureless bioprosthesis (SU-AVR) and sutured bioprosthesis (SB). : Following the PRISMA statement, data were extracted from studies published after August 2022 and found in PubMed/MEDLINE, EMBASE, CENTRAL/CCTR, ClinicalTrials.gov, SciELO, LILACS, and Google Scholar.

The importance of CT Urography in early diagnosis of anatomical variations in urogenital tract: case presentation.

Anatomic variations in the urogenital tract have generally been diagnosed through intravenous urography as a modality of choice. In recent years, computerized tomography (CT) urogram has replaced the traditional intravenous imaging of the genitourinary tract. Hematuria, tumoral mass, obstructive uropathy, and congenital collecting system abnormalities are indications for CT imaging.

The Importance of Magnetic Resonance in Detection of Cortical Dysplasia.

Focal cortical dysplasia is a malformation of cortical development in which there are abnormalities with cortical lamination, neuronal maturation, and neuronal differentiation. It is the most common cause of medically refractory epilepsy in the pediatric population and the second/third most common etiology of medically intractable seizures in adults. Herein, we present the case of 23-years-old female patient, presenting with loss of consciousness, and convulsions.

Corrigendum to 'Ectopic thyroid tissue in the anterior mediastinum along with a normally located gland' (Radiology case reports 16 [2021] 3191-3195).

[This corrects the article DOI: 10.1016/j.radcr.

Benefits and Pitfalls of the Perceval Sutureless Bioprosthesis.

To highlight the main target points covered by clinical studies on the Perceval sutureless valve for surgical aortic valve replacement (SAVR) and raise a point of discussion for further expansion of its use when compared with stented bioprostheses (SB) and transcatheter aortic valve replacement (TAVR). We reviewed clinical trials and retrospective studies published up to date and compared the outcomes in terms of mortality, myocardial infarction (MI) stroke, paravalvular leak (PVL), permanent pacemaker implantation (PPI), bleeding and long-term outcomes. Clinical studies showed that 30-day mortality ranged from 0-4% for Perceval and 2.

The importance of imaging in tuberous sclerosis complex (tsc) in children: Two cases.

Tuberous sclerosis complex (TSC) is an inherited, multisystemic, hamartomatous neurocutaneous disorder, with an autosomal dominant inheritance pattern. It affects multiple organs, however the most susceptible ones include the brain, skin, kidneys, lungs, the retina, and the heart. TSC is characterized by considerable clinical heterogeneity.

MRI diagnosis of Takayasu arteritis in a young woman.

Takayasu arteritis is a rare type of chronic, granulomatous vasculitis, characterized by inflammation of blood vessels of large caliber, such as the aorta, and its branches. Clinical presentation varies, depending on the severity of symptoms. Onset may be gradual, however at times, presentation may be acute, and life threatening.

A rare case of anophthalmia without any family history and antenatal risk factors.

Anophthalmia is a rare genetic disorder. It is defined as the absence of one or both eyes in a patient. It can be unilateral or bilateral.

Ectopic thyroid tissue in the anterior mediastinum along with a normally located gland.

Ectopic thyroid tissue is a rare developmental abnormality arising from an aberration in the normal migration of the thyroid gland, from the floor of the primitive foregut to its final position. It is usually asymptomatic, often being diagnosed as an incidental finding. However, it can present with symptoms of compression such as chest pain, cough, stridor, dysphagia, dyspnea and superior vena cava syndrome.

Importance of MRI in the diagnosis of a rare intracranial mucocele associated with frontal paranasal osteoma: Case report and literature review.

Osteomas and cystic mucoceles are well-known benign tumors, affecting the paranasal sinuses. However, the concomitant presence of both lesions represents a rare occurrence, with only a handful of reported cases. We report a case of a frontal sinus osteoma associated with an intracranial mucocele, in a 61-year-old male patient, with a 3-month history of intermittent headaches and subsequent generalized seizures.

Trigeminal neuralgia caused by Dandy-walker malformation: A case report and systematic review of the literature.

Trigeminal neuralgia is a pain condition that affects the face along the distribution of the trigeminal nerve and can be recurrent and chronic. Dandy-Walker syndrome is a complex congenital brain anomaly that occurs during embryonic development of the cerebellum and the fourth ventricle. It is characterized by inferior cerebellar vermis hypoplasia and incomplete formation of the fourth ventricle.

Popliteal vein aneurysm in a teenager with knee swelling.

Primitive vein popliteal aneurysms are rare and potentially fatal vascular disorders. The most dangerous complications of popliteal vein aneurysms are thromboembolic events, mainly pulmonary embolisms, a life-threatening event that requires a timely diagnosis and prompt management. As a treatable cause of recurrent pulmonary embolisms, their actual incidence is believed to be underestimated.

Silent Moyamoya disease - A rare case report.

Moyamoya is a rare cerebrovascular disorder marked by chronic, gradual blockage of the circle of Willis arteries, leading to characteristic collateral vessels, specifically cerebral angiography. The disease can develop in children and adults, although there are different clinical characteristics. Moyamoya disease occurs mainly in Japanese people but has been reported in all races of varying age distributions and clinical features.

Artery of Percheron infarction: A case report and literature review.

The artery of Percheron (AOP) represents a rare anatomic variant of the posterior circulation. It is a solitary trunk that provides bilateral arterial supply to the rostral midbrain and paramedian thalamus. AOP infarction presentation varies, most often presents with altered mental status, memory impairment, and supranuclear vertical gaze palsy.

Corrigendum to "Asymptomatic presentation of a congenital malformation of the portal vein with portosystemic shunt" [Radiol Case Rep 15 (2020) 2009-2014].

[This corrects the article DOI: 10.1016/j.radcr.

Asymptomatic presentation of a congenital malformation of the portal vein with portosystemic shunt.

Malformations of the portal venous system consist of congenital and acquired anomalies. Congenital portosystemic shunts represent rare vascular developmental anomalies that allow partial or complete diversion of blood flow from the portal venous system to the systemic venous system, bypassing the liver. Congenital portosystemic shunts may be associated with malformations or congenital absence of the portal vein, and it was first described by John Abernethy in 1793.

Giant condyloma acuminatum (Buschke-Lowenstein tumor): Combined treatment with surgery and chemotherapy.

We present a case of giant condyloma acuminatum (Buschke-Lowestein tumor) managed with combined treatment of surgery of chemotherapy.