Jesús Villarrubia
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View article: Abnormal Splicing of GALC Transcripts Underlies Unusual Cases of Krabbe Disease
Abnormal Splicing of GALC Transcripts Underlies Unusual Cases of Krabbe Disease Open
Background/Objectives: Krabbe disease (KD) is a hereditary lysosomal disorder whose hallmark is progressive demyelination, with variable involvement of the central nervous system. It is caused by pathogenic variants in the GALC gene that d…
View article: Study of Adult and Pediatric Spanish Patients with Cryptogenic Splenomegaly and Splenectomy
Study of Adult and Pediatric Spanish Patients with Cryptogenic Splenomegaly and Splenectomy Open
Introduction: The differential diagnosis of splenomegaly is a complex process that encompasses a wide variety of diseases. Moreover, it is not always standardized and lacks a definitive consensus on which tests should be performed and in w…
View article: The impact of interstitial lung disease in patients with acid sphingomyelinase deficiency (ASMD) - A case series
The impact of interstitial lung disease in patients with acid sphingomyelinase deficiency (ASMD) - A case series Open
ASMD patients presented with different target organ involvement, with lung involvement contributing significantly to patient morbi-mortality. ASMD diagnostic suspicion among pulmonologists treating ILD is thus crucial, as multidisciplinary…
View article: Ecological study to estimate the prevalence of patients with acid sphingomyelinase deficiency in Spain. PREVASMD study
Ecological study to estimate the prevalence of patients with acid sphingomyelinase deficiency in Spain. PREVASMD study Open
This first study carried out in Spain shows an estimated prevalence of patients of 0.7 per 1,000,000 inhabitants: 1.2 per 1,000,000 inhabitants in the paediatric population and 0.6 per 1,000,000 inhabitants in the adult population.
View article: Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS)
Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS) Open
(1) Background: Most rare disease patients endure long delays in obtaining a correct diagnosis, the so-called “diagnostic odyssey”, due to a combination of the rarity of their disorder and the lack of awareness of rare diseases among both …
View article: Women with Gaucher Disease
Women with Gaucher Disease Open
Gaucher disease is an inherited disorder in which there is a deficiency of the enzyme glucocerebrosidase, which leads to the accumulation of glucosylceramide. Although much scientific evidence is now available, there is still limited data …
View article: P1483: LONG-TERM IMPACT OF OLIPUDASE ALFA ENZYME REPLACEMENT THERAPY ON SPLEEN VOLUME AND HEMATOLOGIC MANIFESTATIONS IN CHILDREN AND ADULTS WITH CHRONIC ACID SPHINGOMYELINASE DEFICIENCY
P1483: LONG-TERM IMPACT OF OLIPUDASE ALFA ENZYME REPLACEMENT THERAPY ON SPLEEN VOLUME AND HEMATOLOGIC MANIFESTATIONS IN CHILDREN AND ADULTS WITH CHRONIC ACID SPHINGOMYELINASE DEFICIENCY Open
Topic: 32. Platelet disorders Background: Acid sphingomyelinase deficiency (ASMD), historically known as Niemann-Pick disease types A and B, is an underrecognized and debilitating lysosomal storage disease. Deficient ASM activity results i…
View article: Recommendations for oral treatment for adult patients with type 1 Gaucher disease
Recommendations for oral treatment for adult patients with type 1 Gaucher disease Open
This work is a review of the scientific evidence on the oral treatment of adult patients with Gaucher disease type 1 (GD1) with a clinical guideline format according to the Agree II regulations. It describes the main differences between th…
View article: PB2314: OLIPUDASE ALFA FOR ADULTS WITH ACID SPHINGOMYELINASE DEFICIENCY: IMPROVEMENTS IN CROSSOVER PLACEBO PATIENTS AND FURTHER IMPROVEMENTS IN ORIGINAL OLIPUDASE ALFA PATIENTS AFTER 2 YEARS IN ASCEND TRIAL
PB2314: OLIPUDASE ALFA FOR ADULTS WITH ACID SPHINGOMYELINASE DEFICIENCY: IMPROVEMENTS IN CROSSOVER PLACEBO PATIENTS AND FURTHER IMPROVEMENTS IN ORIGINAL OLIPUDASE ALFA PATIENTS AFTER 2 YEARS IN ASCEND TRIAL Open
Background: Acid sphingomyelinase deficiency (ASMD) is a rare debilitating lysosomal storage disease characterized by pulmonary dysfunction, hepatosplenomegaly, thrombocytopenia/bleeding issues, and dyslipidemia. Disease awareness is low a…
View article: Bone marrow infiltration by flow cytometry at diffuse large B‐cell lymphoma NOS diagnosis implies worse prognosis without considering bone marrow histology
Bone marrow infiltration by flow cytometry at diffuse large B‐cell lymphoma NOS diagnosis implies worse prognosis without considering bone marrow histology Open
Background The significance of discrepant findings between histology (BMB) and flow cytometry (FC) in bone marrow (BM) examination at diffuse large B‐cell lymphoma (DLBCL) diagnosis is uncertain. Methods We performed a 5‐year retrospective…
View article: Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next‐generation sequencing gene panel
Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next‐generation sequencing gene panel Open
Lysosomal diseases (LD) are a group of about 70 rare hereditary disorders (combined incidence 1:5000) in which diverse lysosomal functions are impaired, impacting multiple organs and systems. The first clinical signs and symptoms are usual…
View article: Skin lesions and cytological features in <scp>HTLV</scp>‐1 associated adult T‐cell leukaemia/lymphoma
Skin lesions and cytological features in <span>HTLV</span>‐1 associated adult T‐cell leukaemia/lymphoma Open
A 58-year-old woman born in South America was hospitalised for investigation of lymphocytosis and constitutional symptoms. She reported involuntary loss of weight of 5 kg in the previous 2 months, almost daily fever and intense asthenia. D…
View article: Residual enzymatic activity as a prognostic factor in patients with Gaucher disease type 1: correlation with Zimran and GAUSS-I index and the severity of bone disease
Residual enzymatic activity as a prognostic factor in patients with Gaucher disease type 1: correlation with Zimran and GAUSS-I index and the severity of bone disease Open
This study data allowed us to define a new criterion for prognostic assessment of the disease at diagnosis, called Protein Severity Index, which expresses the theoretical severity of the genotype presented by patients, according to the cor…