Thanatophoric dysplasia, an enigmatic dilemma: a case report

Thanatophoric dysplasia is a rare, fatal form of skeletal dysplasia that affects fetus in utero. It is characterized by marked underdevelopment of fetal skeleton and short limbs. This disorder can be diagnosed antenatally and the couple should be counselled for termination of pregnancy. 20 years old female came in her second trimester carrying an ultrasound report which showed features of thanatophoric dwarfism. She was advised to terminate her pregnancy but she decided to continue with her pregnancy. She was induced after 40 weeks and she delivered a stillborn baby with dwarf like features, a condition identified as thanatophoric dwarfism. Early diagnosis can be done by ultrasound as early as 13 weeks of gestation and since babies born with thanatophoric dysplasia have a very poor prognosis, couples should be counselled regarding early termination of pregnancy. 3D ultrasound scan and molecular analysis can also help identify this disorder

Rare incidence of yolk sac tumor in pregnancy posing management challenge: a case report

Yolk sac tumor of the ovary, although rare but highly malignant, when diagnosed in a pregnant woman is difficult to manage because of risks involved to the fetus but with the advent of surgery and chemotherapy prognosis has greatly improved.A G3P2L2, 35 years old, woman got admitted at 8 months amenorrhea with absent fetal movements since two days with labor pains. She carried an ultrasound report, done at a private clinic which showed intrauterine death of fetus along with a pelvic tumor. Her CT done at our hospital confirmed a pelvic tumor mass posterior to the uterus and in close proximity with the rectum. A laparotomy was planned for her as the pelvic mass was preventing the descent of fetal head thus hindering vaginal delivery. Biopsy from the tumor mass revealed yolk sac tumor of the ovary. Her general condition was poor with low Hb levels and deranged LFT and KFT and was shifted to ICU for intensive care but she could not survive despite the best efforts.Early diagnosis of ovarian yolk sac tumor in pregnancy leads to timely intervention in the forms of surgery and chemotherapy which greatly improves the survival rates

Diagnostic yield of bronchoalveolar fluid/bronchoscopy among sputum AFB and CBNAAT negative presumptive tuberculosis patients: an observational study

Background: Tuberculosis is one of the most common chronic infections globally, especially in developing countries like India and is a leading cause of morbidity and mortality. Therefore, early diagnosis, and microbiological confirmation of pulmonary TB is important to break the chain of transmission. This study was carried out to study usefulness of fiberoptic bronchoscopy in sputum smear negative and CBNAAT negative patient of presumptive tuberculosis.Methods: It was an observational study in the Department of Respiratory medicine for duration of 2 years (Sept 2018- Aug 2020) among 100 adults cases of presumptive tuberculosis whose sputum were negative on sputum AFB and CBNAAT. Cases with relative or absolute contraindication for bronchoscopy were excluded from study.Results: Mean age of study subjects was 47.31±12.29 years; M:F was 1.2:1 and 5% had past history of tuberculosis. Most common findings on chest X-ray was alveolar opacities (40%), inhomogeneous opacity (24%), cavitary lesions (20%), cystic lesion (8%) and fibrosis (6%) in different zones of lung. BAL sent for CBNAAT testing detected 15% mycobacterial TB, 2% mycobacterial TB with Rif resistance. Zn staining testing detected 10% AFB, on culture 14% showed AFB growth,4% had malignant cell findings. Diagnostic efficacy of Zn staining of BAL showed 42.86% sensitivity, 95.35% specificity, 60% PPV, 91.11% NPV and 88% diagnostic accuracy. BAL CBNAAT testing had 78.57% sensitivity, 93.02% specificity, 64.71% PPV, 96.39% NPV and 91% diagnostic accuracy. Most common complication was bronchospasm and hypoxia.Conclusions: Fiberoptic bronchoscopy is useful investigation in establishing accurate and early diagnosis of lower respiratory tract infection

Cardiac disease in pregnancy: still an arduous conundrum for the obstetrician

Cardiac diseases, complicating about 1 percent of all pregnancies, account for significant maternal morbidity and mortality by being the leading cause of obstetrical intensive care unit admissions and of indirect maternal deaths. Of late, there has been observed a changing pattern in heart disease, the etiology having shifted from primarily rheumatic to predominantly congenital (75–82%), with shunt lesions preponderating (20–65%). Counseling and management of women of childbearing age with suspected cardiac disease ought to commence prior to conception; they should be managed by interdisciplinary teams; high risk patients must be treated in specialized facilities, and diagnostic procedures and interventions should be executed by mavens with profound expertise in the cardiovascular diseases and proficiency in treating pregnant women. This article provides a comprehensive review on management of cardiac disease in pregnancy to assist obstetricians in tackling this mystifying medical situation effortlessly, attaining a favorable feto-maternal outcome

Comparative evaluation of NESTROFT and RDW as screening tests for beta thalassemia trait in pregnancy

Background: Thalassemia is the commonest inherited hemoglobinopathy. It is estimated that there are about 45 million carriers of the beta thalassemia gene and about 15000 affected infants are born every year in India, thereby contributing to about 10% of the total thalassemia babies born all over the world. Beta Thalassemia Trait (BTT) is asymptomatic while Beta Thalassemia Major (BTM) presents with severe anemia and requires lifelong blood transfusion, so emphasis must shift from treatment to screening and offering prenatal counseling to affected parents.Methods: It was a hospital based cross sectional study on 500 antenatal women with microcytic hypochromic anemia with hemoglobin <9 gm% and MCV <80 fl and all these women underwent Naked Eye Single Tube Red Cell Osmotic Fragility Test (NESTROFT), High Performance Liquid Chromatography (HPLC) and serum ferritin estimation.Results: In our study the sensitivity and specificity of NESTROFT was 93.3% and 95.7% respectively compared to Red cell Distribution Width (RDW) with a sensitivity and specificity of 66.6% and 78.9% respectively.Conclusions: For low resource settings like India, screening for beta thalassemia by NESTROFT is a cheaper and more reliable method with a high sensitivity and specificity and can be performed easily by paramedical staff

Mobilization of Stem Cells Using G-CSF for Acute Ischemic Stroke: A Randomized Controlled, Pilot Study

Background. There is emerging evidence to support the use of granulocyte colony-stimulating factor (G-CSF) therapy in patients with acute ischemic stroke. Aims. To explore feasibility, safety, and preliminary efficacy of G-CSF therapy in patients with acute ischemic stroke. Patients and Method. In randomized study, 10 patients with acute ischemic stroke were recruited in 1 : 1 ratio to receive 10 μg/kg G-CSF treatment subcutaneously daily for five days with conventional care or conventional treatment alone. Efficacy outcome measures were assessed at baseline, one month, and after six months of treatment included Barthel Index (BI), National Institute of Health Stroke Scale, and modified Rankin Scale. Results. One patient in G-CSF therapy arm died due to raised intracranial pressure. No severe adverse effects were seen in rest of patients receiving G-CSF therapy arm or control arm. No statistically significant difference between intervention and control was observed in any of the scores though a trend of higher improvement of BI score is seen in the intervention group. Conclusion. Although this study did not have power to examine efficacy, it provides preliminary evidence of potential safety, feasibility, and tolerability of G-CSF therapy. Further studies need to be done on a large sample to confirm the results

World Federation for Interventional Stroke Treatment (WIST) multispecialty training guidelines for endovascular stroke intervention

Introduction: Today, endovascular treatment (EVT) is the therapy of choice for strokes due to acute large vessel occlusion, irrespective of prior thrombolysis. This necessitates fast, coordinated multi-specialty collaboration. Currently, in most countries, the number of physicians and centres with expertise in EVT is limited. Thus, only a small proportion of eligible patients receive this potentially life-saving therapy, often after significant delays. Hence, there is an unmet need to train a sufficient number of physicians and centres in acute stroke intervention in order to allow widespread and timely access to EVT. Aim: To provide multi-specialty training guidelines for competency, accreditation and certification of centres and physicians in EVT for acute large vessel occlusion strokes. Material and methods: The World Federation for Interventional Stroke Treatment (WIST) consists of experts in the field of endovascular stroke treatment. This interdisciplinary working group developed competency – rather than time-based – guidelines for operator training, taking into consideration trainees’ previous skillsets and experience. Existing training concepts from mostly single specialty organizations were analysed and incorporated. Results: The WIST establishes an individualized approach to acquiring clinical knowledge and procedural skills to meet the competency requirements for certification of interventionalists of various disciplines and stroke centres in EVT. WIST guidelines encourage acquisition of skills using innovative training methods such as structured supervised high-fidelity simulation and procedural performance on human perfused cadaveric models. Conclusions: WIST multispecialty guidelines outline competency and quality standards for physicians and centres to perform safe and effective EVT. The role of quality control and quality assurance is highlighted

World Federation for Interventional Stroke Treatment (WIST) multispecialty training guidelines for endovascular stroke intervention

IntroductionToday, endovascular treatment (EVT) is the therapy of choice for strokes due to acute large vessel occlusion, irrespective of prior thrombolysis. This necessitates fast, coordinated multi-specialty collaboration. Currently, in most countries, the number of physicians and centres with expertise in EVT is limited. Thus, only a small proportion of eligible patients receive this potentially life-saving therapy, often after significant delays. Hence, there is an unmet need to train a sufficient number of physicians and centres in acute stroke intervention in order to allow widespread and timely access to EVT.AimTo provide multi-specialty training guidelines for competency, accreditation and certification of centres and physicians in EVT for acute large vessel occlusion strokes.Material and methodsThe World Federation for Interventional Stroke Treatment (WIST) consists of experts in the field of endovascular stroke treatment. This interdisciplinary working group developed competency – rather than time-based – guidelines for operator training, taking into consideration trainees' previous skillsets and experience. Existing training concepts from mostly single specialty organizations were analysed and incorporated.ResultsThe WIST establishes an individualized approach to acquiring clinical knowledge and procedural skills to meet the competency requirements for certification of interventionalists of various disciplines and stroke centres in EVT. WIST guidelines encourage acquisition of skills using innovative training methods such as structured supervised high-fidelity simulation and procedural performance on human perfused cadaveric models.ConclusionsWIST multispecialty guidelines outline competency and quality standards for physicians and centres to perform safe and effective EVT. The role of quality control and quality assurance is highlighted

A Successful Outcome of Pregnancy in Hepatic Haemangioma: An Account of a Perplexing Case

Liver haemangiomas are described to be the most frequent benign liver tumours, and are mostly incidental detections in asymptomatic individuals. Giant lesions can develop symptoms, and are associated with complications. Female sex hormones, particularly estrogen, are believed to influence haemangioma development and progression. The optimal management of giant haemangiomas during gravidity is inadequately illustrated in literature so far. Diagnosis of a symptomatic giant haemangioma during pregnancy presents a quandary for the clinicians; besides, the safety of conservative management during pregnancy has not been comprehensively investigated. Consensus on the indications for surgical resection of asymptomatic lesions is also lacking at present. Thus, we present a case of a giant hepatic haemangioma diagnosed during pregnancy, where in timely detection and close observation, could successfully diffuse an otherwise a ticking bomb to explode; and also review the literature, with an aim of alleviating the bewilderment on management of haemangioma in pregnancy that might exist in the mind of budding gynecologists

Altered Sensorium in Pregnancy

Altered sensorium in prenatal and post-partum women results due to exacerbation of a pre-existing neurological condition, preliminary presentation of a non-pregnancy-related problem, or a novel acute-onset of neurological malady that is either unique to or occurs with increased frequency during this period. Headache and neurological symptoms are often diagnosed with pre-eclampsia; however, a range of other causes must also be considered, such as cerebral venous sinus thrombosis and reversible cerebral vasoconstriction syndrome. Precise diagnosis is essential to guide subsequent management. If not treated promptly, many of these conditions can bring about morbidity or mortality in young, usually previously healthy females