Prenatal Diagnosis of Triploidy in Fetus with Unexpected Chromosomal Translocation of Maternal Origin.

Triploidy is a lethal chromosomal abnormality. Fetuses with triploid condition have a tendency to die in early conception and very few survive to term. In this study, we report the prenatal diagnosis of fetal triploidy with unexpected chromosomal translocation. A 27 years old women was referred to our clinical cytogenetic department due to history of previous conceptus with intrauterine growth retardation at 21-22 weeks of gestation and in present pregnancy, the quadruple marker screen test had suggested a high risk for Trisomy 18 with the risk >1:50. The study was performed on the amniotic fluid and peripheral blood samples received at the clinical cytogenetics department. The interphase FISH and conventional karyotype methods were followed. The prenatal diagnosis using an amniotic fluid sample found a triploid fetus with unexpected balanced chromosomal translocation: 69, XXX,t(2;9)(q11.2;p22)x2. Later the origin of translocation was confirmed by parental chromosomal study. Cytogenetic analysis showed the presence of translocation involving chromosome 2 and 9 in the mother which confirms the maternal origin of translocation in fetal triploidy. Prenatal diagnosis of fetal triploidy with balanced translocation of maternal origin is a rare finding. In present study, the triploidy arises from the failure to expel the second polar body. It is important to perform prenatal fetal imaging with ultrasound at 18-22 weeks to identify any fetal anomalies or intrauterine growth retardation which is associated with triploidy.

A Cadaveric Study of Anatomical and Radiological Correlation of Mastoid Air Cells System in Relation to its Morphology.

A cadaveric study to know the anatomical and radiological correlation between the mastoid air cell system in relation to its volume and morphology. This is a rare and one of its kind of cadaveric study on temporal bone in which comparison of pre dissection and post cortical mastoidectomy dissection on x-ray mastoid in relation to their dimensions. To study the anatomical and radiological correlation of mastoid air cell system in relation to its morphology using pre and post dissection x-ray measurements and dissection method. 30 adult cadaveric, temporal bone cortical mastoidectomy dissections were performed and X-ray mastoid with a pre and post mastoid dissection measurements using vernier caliper was done. Further 3-D analysis of volume of mastoid cavity compared with a post dissection digital radiographic measurements was carried out. On statistical analysis, mean surface area of MACS, shortest length between sigmoidsinus and posterior wall of EAC, also shortest distance between dural plate and mastoid tip, in pre and post dissection x-ray mastoid and in direct mastoid cavity measurements were not found to be significant. Mastoidectomy being the treatment of choice in day to day practise in many cases this study hopes to add up to the present understanding for the MACS dynamics and assesses the possible anatomical variations that can exist. This study helps us to find the approximate time required for surgery to perform cortical mastoidectomy.

Recent Progress in Hot Melt Extrusion Technology in Pharmaceutical Dosage Form Design.

BACKGROUND: The Hot Melt Extrusion (HME) technique has shown tremendous potential in transforming highly hydrophobic crystalline drug substances into amorphous solids without using solvents. This review explores in detail the general considerations involved in the process of HME, its applications and advances. OBJECTIVE: The present review examines the physicochemical properties of polymers pertinent to the HME process. Theoretical approaches for the screening of polymers are highlighted as a part of successful HME processed drug products. The critical quality attributes associated with the process of HME are also discussed in this review. HME plays a significant role in the dosage form design, and the same has been mentioned with suitable examples. The role of HME in developing several sustained release formulations, films, and implants is described along with the research carried out in a similar domain. METHODS: The method includes the collection of data from different search engines like PubMed, ScienceDirect, and SciFinder to get coverage of relevant literature for accumulating appropriate information regarding HME, its importance in pharmaceutical product development, and advanced applications. RESULTS: HME is known to have advanced pharmaceutical applications in the domains related to 3D printing, nanotechnology, and PAT technology. HME-based technologies explored using Design-of- Experiments also lead to the systematic development of pharmaceutical formulations. CONCLUSION: HME remains an adaptable and differentiated technique for overall formulation development.

Disparate Presentations of Retropharyngeal Abscess: An Experience From a Tertiary Care Centre.

To discuss the varied presentations, diagnosis, and prompt management of retropharyngeal abscess for academic importance. A retrospective study was conducted in the Department of Otorhinolaryngology and Head and Neck Surgery in Belagavi district of Karnataka. Six cases of varied age group with diagnosis of retropharyngeal abscess were studied during two-year period from January 2019 to January 2021. Thorough assessment of all cases was done which included symptoms at the time of presentation, clinical examination findings, imaging studies and laboratory results, medical and surgical interventions. Six patients (4 males, 2 females) were diagnosed as having Retropharyngeal abscess. Youngest age of presentation was 2 month infant. The most common symptoms at presentation included fever and odynophagia seen in all six patients. The clinical examination revealed bulge in posterior pharyngeal wall in all cases, cervical lymphadenopathy in one case, drooling of saliva in three and stridor in one patient, diffuse neck swelling in two ptatients, and trismus in two patients. Contrast Enhanced Computerized Tomographic (CECT) scanning was performed in five patients and one patient underwent Magnetic Resonance Imaging (MRI). The abscess was surgically drained in all patients and received intravenous antibiotics after which there was significant improvement. Retropharyngeal space infection if left untreated, they carry the potential to cause life-threatening complications and death. Although with availability of broad-spectrum antibiotics, the mortality rate is low, appropriate and successful management requires a thorough understanding of the anatomy of the neck, knowledge of usual causative organisms and appropriate medical and surgical management.

Chromosomal aberrations and polymorphic evaluation in males with primary infertility from Indian population.

BACKGROUND AND OBJECTIVES: The chromosomal abnormalities are one of the important causes of male infertility. In view of the genetic risks for the next generation, the importance of careful evaluation of karyotype is essential. The objective of this study was to determine the frequency of chromosomal abnormalities in infertile men with primary infertility from Indian population. MATERIALS AND METHODS: The 78 infertile men with primary infertility, out of which 26 men were azoospermic, 19 men were oligospermic, 4 men were asthenospermic and 29 men were oligoasthenospermic were studied. Karyoptying was performed on peripheral blood lymphocytes by using the Giemsa trypsin banding (GTG) banding technique. Additional data was collected from published studies in Indian population leading to a total of 1814 cases. RESULTS: Chromosome analysis of 78 infertile males showed major chromosome abnormalities in 10.2%, with 6.4% in autosomal chromosome abnormalities and 3.8% in sex chromosome abnormalities. The incidence of major chromosome abnormalities in oligospermic males were 21% and azoospermic males were 15.4 %. Chromosomal polymorphic variants were identified to be 16.7%. Combining the data from other published studies identified 153/ 1814 (8.4%) infertile men of chromosomal abnormalities; with 10.8% in azoospermia, 7.3% in oligospermia and 7.3% in oligoasthenoteratospermic from India. INTERPRETATION AND CONCLUSION: The overall high prevalence of chromosomal abnormalities in infertile males suggests that the conventional chromosomal analysis is an important investigative tool for male infertility, especially prior to use of any assisted reproductive techniques.

Wolf-Hirschhorn syndrome: A case demonstrated by a cytogenetic study.

We present a case with a 4p terminal deletion, evidenced in GTG-banded chromosome study. Phenotypic signs described in the classical Wolf-Hirschhorn syndrome were found on clinical examination of our patient.