Exploring the Clinical and Hematological Characteristics of Beta-Thalassemia Trait: A Comprehensive Analysis in a Tertiary Care Hospital Setting.

Beta-thalassemia is one of the most common inherited hematological diseases caused by more than 350 mutations in the ß-globin gene (HBB). Beta-thalassemia carrier or trait is associated with defects in one allele of the HBB gene. The majority of beta-thalassemia trait cases remain concealed in society and remain unnoticed as they are mostly asymptomatic or present with mild symptoms of anemia. There is a 25% chance of having children with beta-thalassemia major and a 50% chance of having carrier babies when two people with beta-thalassemia trait are married. Hence, it is important to identify the individuals with beta-thalassemia trait and provide counseling to understand the risks of pregnancy and its outcome. Aim To study the identification of beta-thalassemia trait cases along with their clinical findings and hematological correlation. Materials and methods Study Design This was a retrospective study conducted at Saveetha Medical College and Hospital for a period of four years from January 2020 to December 2023. Inclusion Criteria Age group more than 18 years, antenatal mother, cases of anemia who were refractory to iron treatment, and screening of family members in the positive cases of beta-thalassemia trait. Exclusion Criteria History of blood transfusion within three months was excluded. Data Collection  A total number of 837 cases were screened to rule out the presence of beta-thalassemia trait/hemoglobin (Hb) variants. A 2 mL of intravenous blood samples were collected in an ethylene diamine tetraacetic acid (EDTA) vacutainer tube and processed in a Sysmex XN 1000 (Hyogo, Japan: Sysmex Corporation) automated hematology analyzer. The hematological parameters were analyzed. Statistical Analysis The study included both descriptive and analytical characteristics. Mean and standard deviation (SD) were calculated for all the hematological parameters. Beta-thalassemia trait was diagnosed with an HbA2 level of more than 4.0% through high-performance liquid chromatography (HPLC) analysis. Results  Among the 837 samples studied for HPLC screening, 74 (8.8%) cases were found to have beta-thalassemia trait. The age group included was from 18 years to 56 years. Of 74 cases studied, 32(43%) were females and 42(57%) were males. Among the 74 cases studied, the Mentzer index <13 was seen in 58 (78%) cases and the Mentzer index >13 was seen in 16 cases (22%). Thirty-four cases (46%) of beta-thalassemia traits presented to the hospital with a history of fever for evaluation and antenatal screening accounted for 19 cases (26%). The mean red blood cell (RBC) count was 5.5 million/cu.mm; mean corpuscular volume (MCV) was 63.8 fL; mean corpuscular hemoglobin (MCH) was 19.6 pg; red cell distribution width coefficient of variation (RDW-CV) was 17.8%. Among the 74 cases studied, 37(46%) cases had an Hb of more than 11 g/dL, 22 cases had mild anemia, 12 cases had moderate anemia, and three cases had severe anemia. Conclusion This study concluded that regular monitoring of the Mentzer index along with HPLC analysis is an effective approach in identifying beta-thalassemia trait cases and further providing genetic counseling among the couples that will help in reducing high-risk pregnancy and the birth of a child with thalassemia major.

Histological characterization and development of mesial surface sulci in the human brain at 13-15 gestational weeks through high-resolution histology.

Cellular-level anatomical data from early fetal brain are sparse yet critical to the understanding of neurodevelopmental disorders. We characterize the organization of the human cerebral cortex between 13 and 15 gestational weeks using high-resolution whole-brain histological data sets complimented with multimodal imaging. We observed the heretofore underrecognized, reproducible presence of infolds on the mesial surface of the cerebral hemispheres. Of note at this stage, when most of the cerebrum is occupied by lateral ventricles and the corpus callosum is incompletely developed, we postulate that these mesial infolds represent the primordial stage of cingulate, callosal, and calcarine sulci, features of mesial cortical development. Our observations are based on the multimodal approach and further include histological three-dimensional reconstruction that highlights the importance of the plane of sectioning. We describe the laminar organization of the developing cortical mantle, including these infolds from the marginal to ventricular zone, with Nissl, hematoxylin and eosin, and glial fibrillary acidic protein (GFAP) immunohistochemistry. Despite the absence of major sulci on the dorsal surface, the boundaries among the orbital, frontal, parietal, and occipital cortex were very well demarcated, primarily by the cytoarchitecture differences in the organization of the subplate (SP) and intermediate zone (IZ) in these locations. The parietal region has the thickest cortical plate (CP), SP, and IZ, whereas the orbital region shows the thinnest CP and reveals an extra cell-sparse layer above the bilaminar SP. The subcortical structures show intensely GFAP-immunolabeled soma, absent in the cerebral mantle. Our findings establish a normative neurodevelopment baseline at the early stage.

Systematic development of immunohistochemistry protocol for large cryosections-specific to non-perfused fetal brain.

BACKGROUND: Immunohistochemistry (IHC) is an important technique in understanding the expression of neurochemical molecules in the developing human brain. Despite its routine application in the research and clinical setup, the IHC protocol specific for soft fragile fetal brains that are fixed using the non-perfusion method is still limited in studying the whole brain. NEW METHOD: This study shows that the IHC protocols, using a chromogenic detection system, used in animals and adult humans are not optimal in the fetal brains. We have optimized key steps from Antigen retrieval (AR) to chromogen visualization for formalin-fixed whole-brain cryosections (20 µm) mounted on glass slides. RESULTS: We show the results from six validated, commonly used antibodies to study the fetal brain. We achieved optimal antigen retrieval with 0.1 M Boric Acid, pH 9.0 at 70°C for 20 minutes. We also present the optimal incubation duration and temperature for protein blocking and the primary antibody that results in specific antigen labeling with minimal tissue damage. COMPARISON WITH EXISTING METHODS: The IHC protocol commonly used for adult human and animal brains results in significant tissue damage in the fetal brains with little or suboptimal antigen expression. Our new method with important modifications including the temperature, duration, and choice of the alkaline buffer for AR addresses these pitfalls and provides high-quality results. CONCLUSION: The optimized IHC protocol for the developing human brain (13-22 GW) provides a high-quality, repeatable, and reliable method for studying chemoarchitecture in neurotypical and pathological conditions across different gestational ages.

Prevalence of Angiogenesis, Proliferation, and Apoptosis Markers of Cervical Cancer and Their Correlation with Clinicopathological Parameters.

The aim of the study is to investigate the expression of angiogenesis (VEGF and PDGF), angiogenesis inhibitor markers (angiostatin and endostatin), proliferation (Ki67), and apoptosis markers (p53 and p16) of cervical cancer in Indian population and to correlate them with the clinicopathological profile. It is a descriptive study of consecutive cases of cervical cancer from Saveetha Medical College and Hospital between January 2017 and December 2018. The expression of angiogenesis, angiogenesis inhibitor markers, Ki67, p53, and p16 in 60 cases of cervical sections were detected by the immunohistochemical method and analyzed with clinicopathological data. VEGF expression was positive in 16 cases (26.67%) and negative in 20 cases (33.33%). As of PDGF, 3 cases (3.33%) have shown positivity to PDGF and 33 cases have shown negativity. Angiostatin and endostatin expression was reported to be positive in 10 (16.67%) and 21 (35%) cases, respectively. Most of the cases 57 (95%) have shown both p16 and Ki67 positivity. Although p53 expression was positive in 48 cases (80%), the remaining 12 cases (20%) were p53-negative. The PDGF expression was significantly correlated to the stage of tumors. No statistically significant association was observed between angiogenesis inhibitor markers and clinicopathological parameters. A significant positive correlation was noticed between the Ki67 expression and stage of tumors.

A Clinicopathological Study of Paediatric Liver Tumours in a Tertiary Care Hospital.

INTRODUCTION: Paediatric primary liver tumours are the third largest group of solid abdominal neoplasms in children next to neuroblastoma and Wilms tumour, accounting for about 0.5% to 2% of all paediatric neoplasms, in which hepatoblastoma is the most common. AIM: The present study was done to estimate the incidence of paediatric liver tumours over a period of five years and also, to study the clinical behaviour, alpha-fetoprotein correlation and histopathological features of paediatric liver tumours. MATERIALS AND METHODS: The details of patients treated for paediatric liver tumours for a period of five years were retrospectively retrieved from the tumour board and medical records. The gross features and all the slides were reviewed and the pathologic diagnosis was confirmed and clinicopathological correlation was then done. RESULTS: A total of 39 paediatric liver tumours were detected during five years, of which 32 (82%) were malignant and seven (18%) were benign with a male to female ratio of 1:1.1. Hepatoblastoma was the most common liver tumour accounting for 28 cases (71.8%), of which 25 cases (89.4%) were of pure epithelial type. The second most common primary tumour was epithelioid haemangioendothelioma with six cases (15.4%) with female preponderance, followed by two cases each of hepatocellular carcinoma and undifferentiated embryonal sarcoma and one case of hepatocellular adenoma. Serum AFP level was increased in hepatoblastoma and in hepatocellular carcinoma, normal in hepatocellular adenoma and embryonal sarcoma. Serum AFP level was increased in few cases of epithelioid haemangioendothelioma. CONCLUSION: The spectrum of liver tumours in children is different from that in the adults. Hepatoblastoma is the most common paediatric liver tumour, followed by epithelioid haemangioendothelioma. Through better understanding of pathological diagnosis, refined surgical staging, newer and more effective radiological techniques and standardized multimodal therapies, a substantial number of children diagnosed with this highly malignant tumour can expect to survive the disease.

Co-existence of Endometriotic Cyst of the Ovary and Arias-Stella Reaction in a Non-Pregnant Woman: Report of a Rare Case.

Endometriosis is defined as presence of endometrial tissue outside the uterus. It can occur anywhere in the ovary. In the ovary it is usually presented as cyst, termed as endometriotic cyst or Chocolate cyst. Arias-Stella reaction is usually seen in gestational endometrium or in ectopic gestation site and rarely in non-pregnant uterus with hormonal intake. Co-existence of endometriosis and Arias-Stella reaction is very rare. We present a very rare case of endometriotic cyst of the ovary exhibiting Arias -Stella reaction which was seen in of non pregnant patient without any history of hormonal intake.

Gynaecological Perspective of Schwannoma: A Rare Pelvic Tumour.

Schwannomas are benign tumours that arise from Schwann cells of nerve fibres. They commonly occur in the head, neck, mediastinum and extremities but pelvic occurrence is rare. We report a rare case of retroperitoneal tumour with Gynaec presentation. A 26-year-old parous woman was admitted with abdominal mass, pain abdomen, painful menstruation and painful coitus for one year. Abdominal examination revealed firm mass filling the lower abdomen with restricted mobility. On bimanual examination cervix was hitched against pubic symphysis. Mass felt through anterior and left adnexa not tender, uterus felt close to the mass about 8-10 weeks size, right adnexa free. USG revealed broad ligament fibroid with cystic right ovary. Hence myomectomy was planned, but intraoperatively it was found that the mass was filling the pelvis close to bulky uterus with cystic right ovary. After informed consent while proceeding with hysterectomy, necrotic, yellow colour material came out from the capsule like structure of the mass which was close to lower part of posterior wall of uterus. Mass was removed except which was adherent to deeper structure left behind. Histopathological examination revealed Schwannoma undergoing cystic degeneration. Since Schwannoma was mostly diagnosed incidentally, high degree suspicion is necessary for diagnosis.

Anal Papilloma: An Exceptional Presentation of Fibrocystic Disease in Anogenital Mammary-Like Glands.

Previously ectopic breast tissue was thought to be derived from the caudal remnants of the primitive embryonic milk ridges; anogenital mammary-like glands are presently considered as normal constituents of the anogenital region. We report a case of young female, who presented with an anal papilloma. Histopathological examination revealed extensive fibrocystic changes in anogenital mammary-like glands. To date, a lot of benign changes and a wide range of benign and malignant neoplasms have been reported in these glands. However, extensive fibrocystic change of these glands in anal region is very rare. In addition, fibrocystic disease of anal mammary glands, masquerading clinically as an anal papilloma, has not been reported in literature. Hence, it is essential for clinicians and the pathologists to be aware of such a rare presentation. The features of fibrocystic disease in perianal region are also discussed.

Idiopathic eosinophilic synovitis of the knee joint with peripheral eosinophilia - a rare case report.

Synovitis, presenting as a synovial effusion is common. The most common cause include tuberculosis, osteoarthritis. Here with, presenting a rare case of monoarticular synovitis with synovial fluid and peripheral blood eosinophilia of unknown aetiology in an 18-year-old male. We review the clinical and pathological features and impress the need for synovial fluid examination in all cases.

Individualization through standardization: electronic orders for subcutaneous insulin in the hospital.

OBJECTIVE: The objective was to design electronic order sets that would promote safe, effective, and individualized order entry for subcutaneous insulin in the hospital, based on a review of best practices. METHODS: Saint Francis Hospital in Evanston, Illinois, a community teaching hospital, was selected as the pilot site for 6 hospitals in the Health Care System to introduce an electronic medical record. Articles dealing with management of hospital hyperglycemia, medical order entry systems, and patient safety were reviewed selectively. RESULTS: In the published literature on institutional glycemic management programs and insulin order sets, features were identified that improve safety and effectiveness of subcutaneous insulin therapy. Subcutaneous electronic insulin order sets were created, designated in short: "patients eating", "patients not eating", and "patients receiving overnight enteral feedings." Together with an option for free text entry, menus of administration instructions were designed within each order set that were applicable to specific insulin orders and expressed in standardized language, such as "hold if tube feeds stop" or "do not withhold." CONCLUSION: Two design features are advocated for electronic order sets for subcutaneous insulin that will both standardize care and protect individualization. First, within the order sets, the glycemic management plan should be matched to the carbohydrate exposure of the patients, with juxtaposition of appropriate orders for both glucose monitoring and insulin. Second, in order to convey precautions of insulin use to pharmacy and nursing staff, the prescriber must be able to attach administration instructions to specific insulin orders.