Gelatinous transformation of bone marrow: a study of 43 cases

Gelatinous marrow transformation (GMT) is an uncommon and poorly recognized condition characterized by deposition of seromucinous gelatinous material in the bone marrow stroma. Forty-three cases of GMT were studied in a period of 4 years. There was male preponderance. Fourteen cases were in pediatric age group (less than 12 years). Majority of patients had a preceding history of anorexia, malnutrition and chronic debility. All the patients had anemia. Bone marrow biopsy revealed focal or diffuse GMT. Bone marrow aspirate showed metachromatic dense mucoid material with a few entrapped hematopoietic cells on Giemsa staining. The gelatinous material stained with alcian blue at pH 2.5.     

Agreement between CBNAAT,liquid culture and line probe assay for detection of Mycobacterium tuberculosis and anti-tubercular drug resistance in extrapulmonary samples

PurposeCartridge based nucleic acid amplification test (CBNAAT) has been endorsed by the WHO as the screening test for diagnosing extrapulmonary tuberculosis (EPTB). In the present study we report the agreement between CBNAAT (Xpert MTB/RIF), liquid culture (LC) and line probe assay (LPA) for diagnosis of Mycobacterium tuberculosis and detection of drug resistance among EPTB cases.MethodsThe EP samples were subjected to CBNAAT (Xpert MTB/RIF, Cepheid, USA) and wherever possible, to LC (MGIT 960, Becton Dickinson, USA) followed sequentially by first line and second line-LPA (FL-LPA, SL-LPA, Hain Lifescience, Germany) on the isolates.ResultsTotal 566/4080 (13.9%) EP samples were detected positive for M. tuberculosis on CBNAAT. Aspirates from lymph nodes were most often positive (11/30; 36.6%), followed by pus (240/873; 27.5%) and CSF samples (166/104; 15.8%). The detection of M. tuberculosis was more in adults than children except in tissue biopsy samples. Rifampicin resistance was also higher among adults except CSF in which resistance was more in children. Total 185 of 566 (32.7%) CBNAAT positive and 770 of 3510 (21.9%) CBNAAT negative samples could be cultured of which 110/185 (59.4%) and 33/770 (4.3%) respectively turned positive. FL-LPA and SL-LPA of 143 culture isolates showed that 27 isolates had drug resistance, of which 3 (2.1%) were XDR, 11 (7.7%) were Pre-XDR (FQ) and 13 (9.1%) were MDR. Of these 27 resistant isolates, 12 were negative by CBNAAT and two were mislabeled as Rifampicin sensitive or indeterminate based on the unique RpoB gene mutation patterns on LPA. The positive and negative agreements between LC and CBNAAT for detection of M. tuberculosis were 67.1% and 92.7% respectively and between LPA and CBNAAT for rifampicin resistance detection were 98.9% and 92.9% respectively.ConclusionsFor EPTB, CBNAAT should be accompanied with LC wherever possible irrespective of the CBNAAT result.     

Covid-19 Pandemic: Resumption of Orthopedic Care and Medical Education

Covid-19 is a respiratory disease caused by coronavirus 2 (SARS-CoV-2) first identified in Wuhan, China (December 2019). The disease rapidly crossed the barrier of countries, continents and spread globally. Non-pharmaceutical measures such as social distancing, face mask, frequent hand washing and use of sanitizer remained the best available option to prevent the spread of disease. OPD, IPD admissions, elective O. Ts were curtailed. Orthopedic care was only limited to emergency and semi-urgent procedures like necrotizing fasciitis, open fracture, and compartment syndrome. These measures were taken to preserve infrastructure and manpower to manage covid-19 pandemic. The children were thought to have a low susceptibility to covid-19 as compared to an adult. Deferring the patient during pandemic has led to high orthopedic disease burden, morbidity and disease-related sequelae, hence elective care must be resumed with modified hospital infrastructure. Resumption of elective/emergent orthopedic care should be slow, phasic and strategic, much similar to unlocking. Cases must be stratified depending on covid status and severity. Dedicated O.Ts with neutral/negative pressure and HEPA filter for covid positive and suspected patients are to be used. All symptomatic and suspected patients should be investigated for covid-19 by RT-PCR, blood counts and CT scan. Regional anaesthesia should be preferred to General anaesthesia. Power drill/saw/burr/pulse lavage should be minimized to avoid aerosol generation. Postoperatively continuous surveillance and monitoring to be done for covid related symptoms. Medical institutes rapidly shifted to the online mode of education. Blended learning (virtual & physical) and imparting skills have to be continued in post covid phase with equitable distribution of teaching hours to students of different years.     

Anaesthesia and the Sturge-Weber syndrome

We report a series of 13 patients with Sturge-Weber syndrome anaesthetised on 17 occasions. Anaesthesia management varied depending on the clinical manifestations which ranged from localized, superficial skin lesions to extensive systemic involvement. These patients tolerate anaesthesia well but anaesthetic management includes evaluation for associated anomalies. Difficulty with intubation may occur due to angiomas of the mouth and upper airway. Anaesthesia should be planned to avoid trauma to the haemangiomata and increases in intraocular and intracranial pressure. Nous rapportons une série d’observations concernant des porteurs du syndrome de Sturge-Weber anesthésiés à 17 occasions. L’anesthésie a varié selon les manifestations cliniques qui allaient de la lésion superficielle localisée à l’atteinte systémique grave. Ces patients tolèrent bien l’anesthésie mais celle-ci nécessite une recherche des anomalies associées pour fin d’évaluation. La présence d’angiomes de la bouche et des voies respiratoires supérieures peut rendre l’intubation difficile. La planification de l’anesthésie doit inclure la prévention du traumatisme aux hémangiomes et de l’augmentation de la tension intraoculaire et cérébrale.     

The impact of post-partum haemorrhage in “near-miss” morbidity and mortality in developing countries

The global maternal mortality ratio (MMR) of 400 per 100,000 live births results in an estimated 529,000 maternal deaths annually. Most of these deaths occur in developing countries and only about 1% in developed countries. Besides mortality data, the identification and accurate documentation of “near-miss” morbidity (a more sensitive index) is extremely important to assess the quality of health care systems. It can suitably guide to adopt appropriate measures to reduce maternal mortality and morbidity. Haemorrhage remains a major cause of maternal mortality in both developing and developed countries followed by anaemia and infection, which are more common in developing countries. Post-partum haemorrhage (PPH) is a frequent complication of delivery. PPH occurred in 10.5% of all live births worldwide resulting in 13,795,000 cases in the year 2000. The case fatality rate for PPH was 1% and there were 132,000 deaths attributable to PPH. Anaemia as a consequence of PPH was estimated to occur in 1.6 million women every year. Thus, the prevention and adequate management of obstetric haemorrhage are likely to result in a significant reduction in the MMR and in the less frequently monitored “near-miss” morbidity. Strategies to be adopted with regard to PPH in developing countries may differ from those routinely available and practised in developed countries because of limited access to health care facilities and low institutional delivery rate in the former countries. Some low cost, simple techniques to prevent and manage PPH are described. These need to be tested in a wider population to determine which is most suitable for a particular area or country. The mortality and “near-miss” morbidity data should be continually assessed and only then will the impact of these strategies be known. First level midwifery care plus backup by well-equipped hospitals must be developed concomitantly. Anyone can conduct a normal delivery when all is going well but only those with good clinical judgement and the necessary skills will be able to anticipate and manage a problem. This is especially important in the context of PPH where the under-estimation of blood loss coupled with the rapidity of development of serious consequences is the key issue.     

The Rare Diseases Clinical Research Network’s Organization and Approach to Observational Research and Health Outcomes Research

Established in 2003 by the Office of Rare Diseases Research (ORDR), in collaboration with several National Institutes of Health (NIH) Institutes/Centers, the Rare Diseases Clinical Research Network (RDCRN) consists of multiple clinical consortia conducting research in more than 200 rare diseases. The RDCRN supports longitudinal or natural history, pilot, Phase I, II, and III, case–control, cross-sectional, chart review, physician survey, bio-repository, and RDCRN Contact Registry (CR) studies. To date, there have been 24,684 participants enrolled on 120 studies from 446 sites worldwide. An additional 11,533 individuals participate in the CR. Through a central data management and coordinating center (DMCC), the RDCRN’s platform for the conduct of observational research encompasses electronic case report forms, federated databases, and an online CR for epidemiological and survey research. An ORDR-governed data repository (through dbGaP, a database for genotype and phenotype information from the National Library of Medicine) has been created. DMCC coordinates with ORDR to register and upload study data to dbGaP for data sharing with the scientific community. The platform provided by the RDCRN DMCC has supported 128 studies, six of which were successfully conducted through the online CR, with 2,352 individuals accrued and a median enrollment time of just 2 months. The RDCRN has built a powerful suite of web-based tools that provide for integration of federated and online database support that can accommodate a large number of rare diseases on a global scale. RDCRN studies have made important advances in the diagnosis and treatment of rare diseases.