The journal Neuromuscular Disease: NMD published a report about spinal muscular atrophy (SMA). SMA is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (SMN1) gene. Its incidence is approximately 1 in 11,000 live births. In 2007, an International Conference on the Standard of Care for SMA published a consensus statement on SMA standard of care that has been widely used throughout the world. Here the authors report a two-part update of the topics covered in the previous recommendations. In part 1 the authors present the methods used to achieve these recommendations, and an update on diagnosis, rehabilitation, orthopedic and spinal management; and nutritional, swallowing and gastrointestinal management. Pulmonary management, acute care, other organ involvement, ethical issues, medications, and the impact of new treatments for SMA are discussed in part 2. The full-text report you can find here.
The journal Journal of Clinical Pathology has published an article about lysosomal acid lipase deficiency (LALD). LALD is an autosomal recessive disorder of cholesterol ester storage associated with hepatic disease, cirrhosis and accelerated atherosclerosis. Its prevalence in the general population, patients with dyslipidaemia and raised transaminases is unclear. The full-text article you can find here.
The journal Surgical Pathology Clinics has published an article about Hereditary gastric cancer. Hereditary gastric cancer is a relatively rare disease with specific clinical and histopathologic characteristics. Hereditary gastric cancer of the diffuse type is predominantly caused by germline mutations in CDH1. The inherited cause of familial intestinal gastric cancer is unknown. The full-text article you can find here.
The journal “The Journal of Allergy and Clinical Immunology in Practice” has published a study about hereditary angioedema. Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH) is a rare condition with clinical features similar to those of HAE with C1-INH deficiency. Mutations in the F12 gene have been identified in subsets of patients with HAE with normal C1-INH, mostly within families of European descent. The aim of the study is to describe clinical characteristics observed in Brazilians from 42 families with HAE and F12 gene mutations (FXII-HAE), and to compare these findings with those from other populations. The authors evaluated a group of 195 individuals, which included 102 patients clinically diagnosed with FXII-HAE and their 93 asymptomatic relatives. Genetic analysis revealed that of the 195 subjects, 134 individuals (77.6% females) carried a pathogenic mutation in F12. The T328K substitution was found in 132 individuals, and the c.971_1018+24del72 deletion was found in 2 patients. The study included a large number of patients with FXII-HAE, and, as the first such study conducted in a South American population, it highlighted significant differences between this and other study populations. The high number of symptomatic males and patients with estrogen-independent FXII-HAE found here suggests that male sex and the absence of a hormonal influence should not discourage clinicians from searching for F12 mutations in cases of HAE with normal C1-INH. The full-text article you can find here.
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