ABSTRACT
Objectives: Unexplained B12 hypervitaminosis (HB12) in asymptomatic patients leads to a cascade of medical consultations and diagnostic tests aimed at determining its etiology. The objective of this study was to assess the efficacy of the laboratory getting involved in the detection and elimination of immune complexes with vitamin B12 in clinical practice and its economic impact. Methods: A retrospective longitudinal study was undertaken to assess the laboratory strategy of detecting B12 macrovitamin (macro-B12) in patients with HB12 >1,000â¯pg/mL. The clinical characteristics of patients with HB12 referred to Internal Medicine (IM) in the pre- and post-implantation period of the new strategy were compared. Additionally, the healthcare costs of one-year follow-up were estimated. Results: The prevalences of HB12 in the pre- and post-implantation period were 3.9â¯% and 3â¯%, respectively. Macro-B12 explained 25â¯% of the HB12 cases initially detected. A 41â¯% reduction was observed in the number of patients with HB12 after the implantation of the new strategy, thereby resulting in a cost reduction of 5,000 . Conclusions: The laboratory intervention for the detection of macro-B12 provides clear economic and clinical benefits in clinical practice.
ABSTRACT
HLA-C*07:943 differs from C*07:01:01:01 at positions 648 (c.648C > T) and 652 (c.652C > G) in exon 4.
Subject(s)
Genes, MHC Class I , HLA-C Antigens , Alleles , Base Sequence , Exons/genetics , HLA-C Antigens/genetics , Humans , Sequence Analysis, DNAABSTRACT
Las displasias esqueléticas fetales constituyen un conjunto heterogéneo e infrecuente de anomalías en el crecimiento y desarrollo de las estructuras osteocartilaginosas que resultan en una alteración tanto en la forma como en el tamaño de los huesos largos. La identificación ecográfica de las displasias esqueléticas no es difícil puesto que la medición femoral es una rutina en el exámen ecográfico del feto, pero el diagnóstico diferencial de las mismas es complejo. El estudio genético prenatal ha suspuesto un gran avance en su diagnóstico, basándose de forma práctica la orientación diagnóstica en la determinación de su letalidad. La osteogénesis imperfecta tipo VII es un tipo de displasia ósea severa, infrecuente y de herencia autosómica recesiva. Se manifiesta por una rizomielia con deformidades tempranas sobre todo de miembros inferiores. Presenta fracturas neonatales y su pronóstico es desfavorable, siendo la causa más frecuente de muerte neonatal las complicaciones respiratorias con estrechamiento y compresión torácica. El objetivo de este trabajo es exponer un caso de osteogénesis imperfecta tipo VII y hacer una revisión de las principales displasias esqueléticas. Se discute el diagnóstico y manejo de las mismas
Fetal skeletal dysplasias constitute a heterogeneous and infrequent set of abnormalities in the growth and development of osteocartilaginous structures that result in an alteration in both the shape and size of long bones. The ultrasonographic identification of skeletal dysplasias is not difficult because the femoral measurement is a routine in the ultrasound examination of the fetus, but the differential diagnosis of theme is complex. The prenatal genetic study has shown a great advance in its diagnosis, based in a practical way the diagnostic orientation in the determination of its lethality. Osteogenesis imperfecta type VII is a type of severe, infrequent bone dysplasia with recessive autosomal inheritance. It is manifested by a rhizomyelia with early deformities especially of lower limbs. It presents neonatal fractures and its prognosis is unfavorable, being the most frequent cause of neonatal death the respiratory complications with narrowing and thoracic compression. The objective of this paper is to present a case of osteogenesis imperfecta type VII and to review the main skeletal dysplasias. We discuss the diagnosis and management of them
Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Adult , Osteogenesis Imperfecta/diagnostic imaging , Diagnosis, Differential , Prenatal Diagnosis , Ultrasonography, PrenatalABSTRACT
Ataxia-telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder characterized by progressive cerebellar ataxia, ocular apraxia, immunodeficiency, telangiectasia, elevated serum α-fetoprotein concentration, radiosensitivity and cancer predisposition. Classical A-T is caused by biallelic variants on ATM (ataxia telangiectasia mutated) gene, leading to a loss of function of the protein kinase ATM, involved in DNA damage repair. Atypical presentations can be found in A-T-like disease or in Nijmegen breakage syndrome, caused by deficiency of mre11 or nibrin proteins, respectively. In this report, we present the genetic characterization of a 4-year-old female with clinical diagnosis of A-T. Next-generation sequencing (NGS) revealed two novel heterozygous mutations in the ATM gene: a single-nucleotide variant (SNV) at exon 47 (NM_000051.3:c.6899G > C; p.Trp2300Ser) and â¼90 kb genomic duplication spanning exons 17-61, NG_009830.1:g.(41245_49339)_(137044_147250)dup. These findings were validated by Sanger sequencing and MLPA (multiplex ligation-dependent probe amplification) analysis respectively. Familial segregation study confirmed that the two variants are inherited, and the infant is a compound heterozygote. Thus, our study expands the spectrum of ATM pathogenic variants and demonstrates the utility of targeted NGS in the detection of copy number variation.