Successful prolonged use of non-invasive ventilation in severe COVID-19 patients: a case series.

BACKGROUND: The Coronavirus disease-19 (COVID-19) primarily affects respiratory system leading to acute hypoxemic respiratory failure. Invasive mechanical ventilation has been a gold standard in the respiratory therapy of patients with acute respiratory distress syndrome (ARDS). It requires advanced ventilators, qualified intensivists and trained intensive care unit (ICU) staff to manage, which is not readily available and of which there has been a perpetual shortage during the current pandemic. Non-invasive ventilation (NIV) is one of the bridging non-invasive respiratory supports to avoid invasive intubation intended to improve oxygenation and ventilation in severe COVID-19 patients where conventional oxygen therapy fails. CASE: The authors report a series of four cases where prolonged NIV was used under expert supervision in patients with severe COVID-19 disease. CONCLUSIONS: This case series showed that NIV can be prolonged successfully under supervision in severe COVID-19 patients that can avoid intubation and its complications

Prevalence of the triple X syndrome in phenotypically normal women with premature ovarian failure and its association with autoimmune thyroid disorders

Objective: To determine the prevalence of triple X femailes among patients with premature ovarian failure and to describe the clinical features of the syndrome. Design: Case report. Setting: Tertiary care hospital. Patient(s): Fifty-two consecutive patients with secondary amenorrhea due to premature ovarian failure and no clinical stigmata of Turner's syndrome. Main outcome measure(s): Triple X syndrome and clinical features, as assessed by karyotype analysis using Giemsa trypsin banding of metaphase chromosomes. Result(s): Two of the 52 patients with premature ovarian failure had triple X syndrome. Both cases had associated autoimmune thyroid disorder. One of the women with triple X syndrome had two pregnancies that were complicated by premature birth, idiopathic thrombocytopenia, neonatal death, and occipital encephalocoele. Conclusion(s): Among patients with premature ovarian failure, 3.8% have triple X syndrome. The syndrome may be associated with autoimmune thyroid disorder and poor pregnancy outcome due to congenital malformation

A case series of melioidosis: An underdiagnosed infection

Melioidosis is an infection caused by Burkholderia pseudomallei. It is a non notifiable disease and is not included in Integrated Disease Surveillance Program by National Center of Disease Control. India is predicted to have highest burden of disease with an estimated mortality of 32,000 per year. Melioidosis presents with a wide range of clinical manifestations like pneumonia, liver and splenic abscess, septicemia etc. This wide spectrum of presentation and mimicry with other infections leads to its misdiagnosis or underdiagnosis. The only source of disease burden in India is few case reports and the true burden and distribution of disease still needs to be assessed. We, hereby, report a case series of four cases aged 28 years, 53 years, 33 years and 22 years. All cases had different clinical presentation ranging from abdominal wall abscess to septicemia and neurological manifestations making the diagnosis challenging. Three of the four cases were discharged after complete recovery while one case went leave against medical advice.To our knowledge this is the first series describing complete recovery of three out of four cases. This case series will help the physicians to raise their index of clinical suspicion of melioidosis in high risk patients presenting with various findings thus improving the chances of correct diagnosis and treatment

Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India

Background & objectives: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with a wide range of clinical manifestations. The disease is attributed to mutations in CYP21A2 gene encoding 21-hydroxylase enzyme. In view of severe phenotype in salt-losing cases, issues related to genital ambiguity in girls and precocity in boys, most families opt for prenatal testing and termination of affected foetus. CAH can be diagnosed in utero through direct molecular analysis of CYP21A2 gene, using DNA extracted from foetal tissues or cells obtained from chorionic villus sampling or amniocentesis. The objective of this study was to evaluate the feasibility and accuracy of prenatal diagnosis (PND) using sequencing and multiplex ligation probe amplification (MLPA) methods in families at risk for CAH. Methods: Fifteen pregnant women at risk of having an affected offspring with CAH were included in this study. Ten families had previous affected children with salt-wasting/simple virilising form of CAH and five families did not have live children but had a high index of suspicion for CAH in previous children based on history or records. Mutation analysis was carried out by Sanger sequencing and MLPA method. Results: Seven different mutations were identified in 15 families. Deletions and I2g mutation were the most common. Of the 15 foetuses analyzed, nine were unaffected while six were affected. Unaffected foetuses were delivered, they were clinically normal and their genotype was found to be concordant to the prenatal report. All except two families reported in the second trimester. None of the couples opted for prenatal treatment. Interpretation & conclusions: Our preliminary findings show that PND by direct mutation analysis along with MLPA is a feasible strategy that can be offered to families at risk

Compassionate use of a novel β-lactam enhancer-based investigational antibiotic cefepime/zidebactam (WCK 5222) for the treatment of extensively-drug-resistant NDM-expressing Pseudomonas aeruginosa infection in an intra-abdominal infection-induced sepsis patient: a case report

Abstract Infections in critically-ill patients caused by extensively-drug-resistant (XDR)-Pseudomonas aeruginosa are challenging to manage due to paucity of effective treatment options. Cefepime/zidebactam, which is currently in global Phase 3 clinical development (Clinical Trials Identifier: NCT04979806, registered on July 28, 2021) is a novel mechanism of action based β-lactam/ β-lactam-enhancer combination with a promising activity against a broad-range of Gram-negative pathogens including XDR P. aeruginosa. We present a case report of an intra-abdominal infection-induced sepsis patient infected with XDR P. aeruginosa and successfully treated with cefepime/zidebactam under compassionate use. The 50 year old female patient with past-history of bariatric surgery and recent elective abdominoplasty and liposuction developed secondary pneumonia and failed a prolonged course of polymyxins. The organism repeatedly isolated from the patient was a New-Delhi metallo β-lactamase-producing XDR P. aeruginosa resistant to ceftazidime/avibactam, imipenem/relebactam and ceftolozane/tazobactam, susceptible only to cefepime/zidebactam. As polymyxins failed to rescue the patient, cefepime/zidebactam was administered under compassionate grounds leading to discharge of patient in stable condition. The present case highlights the prevailing precarious scenario of antimicrobial resistance and the need for novel antibiotics to tackle infections caused by XDR phenotype pathogens