RESUMO
Osteogenesis imperfecta (OI) commonly involving defects in COL1A1 and COL1A2 is a rare hereditary disease of bone fragility affecting 6-7 per 100,000 population. On the other hand, hypopituitarism is a separate entity that manifests with reduced levels of pituitary hormones. The cooccurrence of these two is seldom reported previously in literature as a deviation from Occam's razor. Here, we reported a case of pathological fracture in a 31-year-old male who had blue sclera and secondary adrenal insufficiency, hypogonadotropic hypogonadism, and growth hormone deficiency along with primary autoimmune hypothyroidism. Diagnosis of OI was suggested by heterozygous missense variant in exon 40 of the COL1A2 gene (chr7: g.94423092G > A; Depth: 99×) that resulted in the amino acid substitution of Serine for Glycine at codon 847. Replacement of glucocorticoid, levothyroxine, and testosterone was started along with antiresorptive therapy for better bone health outcomes.
RESUMO
Sodium glucose cotransporter-2 inhibitors (SGLT-2i) are antidiabetic medications with remarkable cardiovascular (CV) benefits proven by multiple randomised controlled trials and real-world data. These drugs are also useful in the prevention of CV disease (CVD) in patients with diabetes mellitus (DM). Although DM as such is a huge risk factor for CVD, the CV benefits of SGLT-2i are not just because of antidiabetic effects. These molecules have proven beneficial roles in prevention and management of nondiabetic CVD and renal disease as well. There are various molecular mechanisms for the organ protective effects of SGLT-2i which are still being elucidated. Proper understanding of the role of SGLT-2i in prevention and management of CVD is important not only for the cardiologists but also for other specialists caring for various illnesses which can directly or indirectly impact care of heart diseases. This clinical review compiles the current evidence on the rational use of SGLT-2i in clinical practice.
RESUMO
AIMS AND OBJECTIVES: The aim and objective of this study is to detect invasive fungal infections (IFIs) early and with more sensitivity by the nested polymerase chain reaction (PCR) for fungus as compared to fungal culture in clinically suspected patients and also explore its correlation in reference to age, duration of symptoms, immunocompromised status, and other risk factors predisposing to IFIs. MATERIALS AND METHODS: In this cross-sectional study, 50 suspected patients admitted in medical acute care unit/intensive care unit (ACU/ICU) of Sir Sunderlal Hospital, Banaras Hindu University, Varanasi, India, comprised the study. All cases were selected based on the predefined inclusion and exclusion criteria. A detailed history, clinical examination, and all required investigations were done in all suspected patients. Blood samples were taken for nested-PCR for fungus and culture. Nested PCR was performed on extracted DNA form samples collected from all participants under the study. RESULTS: Our study comprised of 50 suspected immunocompromised patients of IFIs. Among the participants under the study, the most common risk factor was diabetes mellitus (28% cases). Nearly two-thirds (60%) of the cases were 50 years or more. Around 70% of the cases had a history of illness more than 2 weeks. Nested PCR for fungus came out to be positive in 21/50 patients (42%); however, fungal culture was positive in none. Among the admitted patient in ACU/ICU, 75% were neutropenic. CONCLUSIONS: IFIs are more common in immunocompromised individuals, patients with comorbidities, long history of symptoms, and elderly population. Nested PCR for fungus has a high sensitivity (as compared to the fungal culture), and also they are rapid in giving the results. Thus, nested PCR for fungus can be used in a cost-effective manner for the early and reliable diagnosis of clinically suspected IFIs.