ABSTRACT
Triose phosphate isomerase (TPI) is a crucial enzyme for glycolysis. TPI deficiency is an autosomal recessive metabolic disease described in 1965, which remains exceptional by its rarity (less than 100 cases described worldwide), but by its extreme severity. Indeed, it is characterized by a chronic hemolytic anemia, an increased susceptibility to infections and especially, a progressive neurological degeneration which leads to death in early childhood for the majority of cases. We report in our observation the history of diagnosis and clinical course of monozygotic twins born at 32 WA with triose phosphate isomerase deficiency.
Subject(s)
Anemia, Hemolytic, Congenital Nonspherocytic , Carbohydrate Metabolism, Inborn Errors , Humans , Child, Preschool , Triose-Phosphate Isomerase/metabolism , Anemia, Hemolytic, Congenital Nonspherocytic/diagnosis , Erythrocytes/metabolism , Carbohydrate Metabolism, Inborn Errors/complications , Carbohydrate Metabolism, Inborn Errors/diagnosisABSTRACT
Mature B-cell lymphoproliferation with hairy lymphocytes include Marginal Zone Splenic Lymphoma (SMZL), Hairy Cell Leukemia (HCL), Splenic Diffuse Red Pulp Lymphoma (SDRPL), and Variant Hairy Cell Leukemia (HCL-v), the two latter being provisional entities that appeared in the 2008 WHO classification. We report the case of a 75-year-old man who benefited from a diagnostic re-evaluation of his SMZL. The good clinical evolution, the flow cytometry investigation (HCL score < 3, SDRPL score > 3, strong CD180 and CD200/CD180 ratio < 0.5) and the histological assessment favored a SDRPL. This entity did not exist at the time of the diagnosis in 2006. The differential diagnosis between these diseases sometimes remains uneasy. Here are mentioned some practical clues to assess the diagnosis.
Les syndromes lymphoprolifératifs B matures avec des lymphocytes d'aspect « chevelus ¼ comprennent le lymphome splénique de la zone marginale splénique (SMZL), la leucémie à tricholeucocytes (HCL), le lymphome diffus de la pulpe rouge (SDRPL) et la leucémie à tricholeucocytes variante (HCL-v), ces deux dernières étant des entités provisoires apparues dans la classification OMS 2008. Nous rapportons le cas d'un homme de 75 ans qui a bénéficié d'une réévaluation diagnostique de son SMZL. En effet, la bonne évolution clinique, les données des explorations par cytométrie en flux (score HCL < score SDRPL > 3, CD180 fort et ratio CD200/CD180 < 0,5) et les données anatomopathologiques ont conclu à un SDRPL. Cette entité n'existait pas lors du diagnostic en 2006. Le diagnostic différentiel entre ces différentes pathologies n'étant pas toujours aisé, nous tenterons de donner quelques pistes pratiques pour conduire au diagnostic précis.
Subject(s)
Leukemia, Hairy Cell , Leukemia, Lymphocytic, Chronic, B-Cell , Aged , B-Lymphocytes , Diagnosis, Differential , Flow Cytometry , Humans , Leukemia, Hairy Cell/diagnosis , MaleABSTRACT
Inherited disorders of B12 metabolism produce a broad spectrum of manifestations, with limited knowledge of the influence of age and the function of related genes. We report a meta-analysis on 824 patients with a genetically proven diagnosis of an inherited disorder of vitamin B12 metabolism. Gene clusters and age categories are associated with patients' manifestations. The "cytoplasmic transport" cluster is associated with neurological and ophthalmological manifestations, the "mitochondrion" cluster with hypotonia, acute metabolic decompensation, and death, and the "B12 availability" and "remethylation" clusters with anemia and cytopenia. Hypotonia, EEG abnormalities, nystagmus, and strabismus are predominant in the younger patients, while neurological manifestations, such as walking difficulties, peripheral neuropathy, pyramidal syndrome, cerebral atrophy, psychiatric disorders, and thromboembolic manifestations, are predominant in the older patients. These results should prompt systematic checking of markers of vitamin B12 status, including homocysteine and methylmalonic acid, when usual causes of these manifestations are discarded in adult patients.
Subject(s)
Vitamin B 12 Deficiency , Vitamin B 12 , Humans , Methylmalonic Acid , Muscle Hypotonia/complications , Vitamin B 12/metabolism , Vitamin B 12 Deficiency/genetics , VitaminsABSTRACT
The risk of adverse effects of nitrous oxide (N2O) exposure is insufficiently recognized despite its widespread use. These effects are mainly reported through case reports. We conducted an individual patient data meta-analysis to assess the prevalence of clinical, laboratory, and magnetic resonance findings in association with N2O exposure in medical and recreational settings. We calculated the pooled estimates for the studied outcomes and assessed the potential bias related to population stratification using principal component analysis. Eighty-five publications met the inclusion criteria and reported on 100 patients with a median age of 27 years and 57% of recreational users. The most frequent outcomes were subacute combined degeneration (28%), myelopathy (26%), and generalized demyelinating polyneuropathy (23%). A T2 signal hyperintensity in the spinal cord was reported in 68% (57.2-78.8%) of patients. The most frequent clinical manifestations included paresthesia (80%; 72.0-88.0%), unsteady gait (58%; 48.2-67.8%), and weakness (43%; 33.1-52.9%). At least one hematological abnormality was retrieved in 71.7% (59.9-83.4%) of patients. Most patients had vitamin B12 deficiency: vitamin B12 <150 pmol/L (70.7%; 60.7-80.8%), homocysteine >15 µmol/L (90.3%; 79.3-100%), and methylmalonic acid >0.4 µmol/L (93.8%; 80.4-100%). Consistently, 85% of patients exhibited a possibly or probably deficient vitamin B12 status according to the cB12 scoring system. N2O can produce severe outcomes, with neurological or hematological disorders in almost all published cases. More than half of them are reported in the setting of recreational use. The N2O-related burden is dominated by vitamin B12 deficiency. This highlights the need to evaluate whether correcting B12 deficiency would prevent N2O-related toxicity, particularly in countries with a high prevalence of B12 deficiency.
ABSTRACT
Premature rupture of the membranes (PROM) is a frequent event affecting 3% of pregnancies. PROM causes 30% of premature deliveries and 20% of perinatal mortality. The diagnosis relies mainly on the clinical visualization of the amniotic fluid flow in the vagina. If not, clinicians can use bedside tests detecting either the change of the vaginal pH or the presence of amniotic components mainly IGFBP-1 or AFP in the vaginal fluid. We aimed to study the technical and analytical characteristics of 5 immunochromatographic tests (easyProm®, ActimProm®, Toda Amniodiag 5 strip®, Amnioquick® Duo, Amnisure®) that mainly detect IGFBP-1 in order to compare our results with the data from the manufacturer. We evaluated the pre-analytical phase (sampling, sample stability and elution) and the analytical phase (limit of detection, reading time and interferences related to a physiological contamination). Compliance with the pre-analytical step is crucial because the absorption and the elution of the samples in the buffer vary with the swab. Once eluted, the sample is stable. The recommended reading times are adequate but must not be exceeded, otherwise the result can be falsely positive. The detection limits announced appear to be to optimistic. The presence of maternal blood but not maternal urine can perturb the results.
