Concurrence of glucose-6-phosphate dehydrogenase deficiency in pregnancy.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an inherited X-linked disorder affecting red cell function and presenting as haemolytic anaemia or crisis in apparently normal population. Pregnancy is a special metabolic condition which may be equally affected with G6PD deficiency. Chronic anaemia of pregnancy may be complicated by haemolysis due to G6PD deficiency by triggering factors often observed in non-pregnant. Two cases of G6PD deficiency complicating pregnancy are being described. One of the women presented with severe anaemia triggered by a sulfa drug while other presented with jaundice precipitated by acute urinary tract infection. A prompt management led to successful outcome in both the woman. To the best of our knowledge, this is the first report of acute haemolytic crisis due to G6PD deficiency triggered by sulphamethoxazole in pregnancy, from this part of the world.

Congenital Absence of Sternum: A Surgical Technique for Successful Outcome.

Congenital absence of sternum is a rare malformation of the anterior chest wall that needs surgical correction to avoid life-threatening complications as a consequence of such defect. It results from either partial or complete failure of fusion of mesenchymal strip during in utero organogenesis. The absence of sternum entails the risk of trauma to the mediastinal structures and other life-threatening complications. This defect is evaluated by a thorough clinical examination and computed tomography imaging of the thoracic cage to plan the surgical procedure. Early repair of the defect when the thoracic cage is still compliant yields the best result.

Co-Twin Prognosis After Single Intrauterine Fetal Death at a Tertiary Care Hospital in India: A Retrospective Observational Study.

INTRODUCTION: Twin pregnancy is associated with an increased risk of perinatal morbidity. Besides, if intrauterine death of a single twin occurs, it increases the morbidity of the surviving co-twin perinatally and postnatally. AIM:  The objective of this study was to determine the incidence of single intrauterine fetal death (SIUFD) in a twin pregnancy and fetal outcome defined in dimensions according to the complications in the surviving co-twin. MATERIAL AND METHODS: Data on twin pregnancies were collected retrospectively for a period of five years (from 2015 to 2019) from the labour room records of the Central Records Department (CRD) at the Postgraduate Institute of Medical Education and Research, Chandigarh, India. Cases with SIUFD were studied individually and neonatal follow-up was taken post delivery for up to three to eight years. Inclusion criteria were SIUFD in twin pregnancies after 14 weeks gestation, chorionicity pre-defined by early trimester ultrasonography. Exclusion criteria were higher-order pregnancy and monoamniotic twins. RESULTS: A total of 1246 (4.273%) twin deliveries were conducted in the study period. Of these, 107 (8.587%) pregnancies had SIUFD with co-twin surviving in utero. Among these, 77 (72%) were dichorionic diamniotic (DCDA) twin pregnancies and 30 (28%) were monochorionic diamniotic (MCDA) twin pregnancies. The incidence of SIUFD was 8.5%. Preterm birth was the most common complication observed in our study and was found in 53.5% and 58.3% of participants in DCDA and MCDA twins, respectively. Early neonatal death (within 24 hours of life) of the surviving twin was found in 29.2% monochorionic twins with SIUFD. SIUFD at < 28 weeks gestation led to a greater number of early neonatal deaths of surviving twins. The incidence of neurodevelopmental disorders (cerebral palsy, developmental delay, epilepsy) in our population after birth was 7.5% (n=93). CONCLUSION: Twin pregnancies with SIUFD have an increased incidence of preterm labour, increased neonatal death of the surviving twin, and neurodevelopmental disorders (cerebral palsy, developmental delay, epilepsy). Monochorionicity and SIUFD at <28 weeks gestation are associated with increased neonatal deaths in co-twin. The Incidence of neurodevelopmental disorders is not directly associated with chorionicity, but developmental delay is more profoundly seen in the monochorionic group.

Role of Cerebroplacental Ratio in Predicting Perinatal Outcome.

Objective Doppler velocimetry provides a sensitive, non-invasive, and safe method of surveillance of fetal hemodynamics and fetomaternal circulation. Cerebroplacental ratio (CPR) is an indicator of placental function and fetal maladaptation to placental insufficiency. Cerebroplacental ratio (CPR) is becoming a significant indicator of unfavorable pregnancy outcomes, which has implications for the assessment of fetal well-being. This study aimed to determine the cut-off value of the cerebroplacental ratio (CPR) in appropriate for gestational age (AGA) fetuses in high-risk mothers to predict adverse perinatal outcomes. We also compared the efficacy of CPR, umbilical artery pulsatility index (UmA PI), and middle cerebral artery pulsatility index (MCA PI) for predicting adverse perinatal outcomes. Design and setting This was a prospective observational study conducted at the Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India. Methods A total of 100 women with singleton high-risk pregnancies were included in this prospective observational study. Obstetric ultrasound was performed at the time of recruitment, and fetal weight and CPR were noted. Based on fetal weight, patients were divided into AGA and fetal growth restriction (FGR) groups; CPR was measured; patients were followed up fortnightly; and outcomes were noted. Main outcome The effectiveness of CPR, UmA PI, and MCA PI for predicting poor perinatal outcomes and identifying the cut-off value of CPR in appropriate for gestational age (AGA) fetuses in high-risk mothers was assessed. Result The values of MCA PI, UmA PI, and CPR were statistically significant between AGA and FGR (p-value =.023, .002 and .0001), respectively. The cut-off value for CPR-detecting adverse outcomes in AGA was 1.49. It has sensitivity, specificity, positive predictive value, and negative predictive value of 67.5%, 68%, 71.69%, and 70.21%, respectively. Conclusion Cerebroplacental ratio (CPR) reflects both circulatory insufficiency of the placenta and adaptive changes of the middle cerebral artery, indicating an important non-invasive surveillance modality.

Mode of Mechanical Ventilation in a Case of Venolymphatic Malformation: Spontaneous-Saves, Positive-Precludes.

Mediastinal venolymphatic malformations (VLM) are rare tumours, with very few reported cases in the literature. Arising often from the anterior mediastinum, VLM manifests symptoms based on invaded surrounding structures. Masses from the anterior and superior mediastinum pose an anaesthetic challenge for airway and hemodynamic management. A 7-month-old male child presented with a progressively growing mass over the left anterior chest wall for one month, about 4x4 cm, with diffuse margins and now expanded to involve the root of the neck and into the axilla. The patient was free from any apparent systemic illness. The breathing difficulty worsened in the past week with noisy respiration associated with feeding difficulty and hence sought medical admission to the paediatrics emergency unit. In conclusion, such huge mediastinal masses are managed better under spontaneous ventilation with an adequate surgical depth of anaesthesia to maintain appropriate respiratory compliance and necessitate lower peak inspiratory pressure. Given rare cases reported in the literature, similar topics would help choose the modus of ventilation and their safe management.

Primary Uterine Alveolar Soft Part Sarcoma in a Postmenopausal Woman: Histopathologic and Immunohistochemical Characteristics of a Rare Case.

BACKGROUND: Primary uterine alveolar soft part sarcoma (ASPS) is a rare, indolent mesenchymal malignancy with less than 40 patients documented in the literature. CASE: We report an example of ASPS in a 61-year-old postmenopausal woman. Macroscopically, the uterus showed multiple nodular masses. Microscopic examination revealed tumor arranged in nests and alveolar pattern. The tumor cells were moderately to markedly pleomorphic, epithelioid to polygonal, with eccentrically placed nuclei, vesicular chromatin, prominent macro-nucleoli, and moderate to abundant eosinophilic cytoplasm. PAS-positive and diastase-resistant intracytoplasmic crystals were also seen in some tumor cells. On immunohistochemistry, the tumor cells showed diffuse positivity for vimentin and nuclear positivity for TFE3, a surrogate marker for ASPS. These were negative for SMA, desmin, CD10, h-caldesmon, cyclin D1, EMA, Melan A, and CD34. SMARCB1 expression was retained. Based on the histopathology and IHC, a final diagnosis of uterine ASPS was rendered. CONCLUSIONS: Knowledge of the characteristic histopathologic and immunohistochemical features can help accurately diagnose such rare tumors. Knowledge of the characteristic histopathologic and immunohistochemical features can help accurately diagnose such rare sarcoma in an uncommon site with an unusual age.

Exploring the Role of Levonorgestrel Intrauterine System (LNG-IUS) as a Method of Emergency Contraception (EC).

Copper T 380-A (CuT380A) intrauterine device (IUD) has been an effective method of emergency contraception (EC). Levonorgestrel intrauterine system (LNG-IUS) has not been approved by the Food and Drug Association for EC till now. There are few studies that provide data regarding the efficacy of LNG-IUS as EC. This systematic review tried to explore the efficacy of LNG-IUS in preventing accidental pregnancies up to five days of unprotected intercourse. A systematic review of the published studies on the use of LNG-IUS as EC was done. All randomized trials, prospective cohorts, retrospective cohorts. and case-control study designs pertaining to this topic were included in this review. Abstracts were retrieved and reviewed by two authors independently. Variables pertaining to socio-demographic parameters, EC use-related variables (reason for use, frequency, time elapsed since coitus), and those associated with sexual habits were selected and recorded. A total of six articles were rendered for the review. High school students and those attending college accounted for 36.8%-51.8% of the study population. Data on the reason for seeking EC showed noncompliance to routine contraception as the most common reason, followed by failure of withdrawal method, breach of barrier contraception, and unplanned intercourse. With a negligible failure rate, LNG-IUS seemed to be a good alternative to the existing copper EC. Considering the plethora of noncontraceptive benefits associated, LNG-IUS can be safely provided as an option of EC in the cafeteria approach within five days of unprotected intercourse.

Discordant immunohistochemistry in an unusual MLH1 gene variant in a case of Lynch syndrome.

Immunohistochemistry for mismatch repair proteins and microsatellite instability testing are recommended screening methods for Lynch syndrome. They have a good sensitivity and specificity, allowing for directed genetic testing and diagnosis. We report a case of Lynch syndrome with retained MMR protein expression who later showed an MLH1 gene variant on genetic testing (Next Generation Sequencing) requested because of the clinical presentation of metachronous colonic and endometrial carcinoma. This report makes the case for strong clinical suspicion and directed genetic testing despite initial screen negative results.

Recurrent Molar in Five Consecutive Pregnancies - A Case Report.

Recurrent molar pregnancy is very rare. In this case report, we highlight a case of a patient who experienced five recurrent molar pregnancies without an intervening normal pregnancy. A 22-year-old patient was admitted to our labour room with a fifth consecutive molar pregnancy. The patient underwent suction and evacuation and was followed up with serial serum human chorionic gonadotropin (beta-hCG) estimation. The patient did not require chemotherapy. Karyotype of the patient and her husband was normal. Nonetheless, the couple was counselled for adoption.