A newborn infant was referred because of low-set ears, mild downward slant of the palpebral fissures, micrognathia with high-arched palate, a flat midface, small mouth, and thin upper lip with cupid bow configuration. To some extent her cry resembled that associated with cri du chat syndrome. Cytogenetic findings with G- and Q-banding alone failed to characterize precisely the complex translocations. By the chromosome in situ suppression (CISS) hybridization technique using whole chromosome specific probes, a complex 4 breakpoint rearrangement involving both arms of a single chromosome 1 with the long arms of chromosomes 5 and 11 was disclosed, i.e., 46,XX, der(1),t(1;5) t(1;11) (5qter-->5q31::1p31.3-->1q44::11q23-->11 qter;5pter-->5q31::1p31.3-->1pter;11pter-- >11q 23::1q44-->1qter). Gene deregulation and position effect may explain the multiple anomalies in individuals with apparently balanced translocations. The molecular characterization of such cytogenetically balanced translocations may shed some light towards unveiling the clinical consequences associated with aberrations which are presumably balanced.

Objective: To assess the perception and attitude of physicians related to breaking bad news. Methods: The cross-sectional study was conducted at three teaching hospitals in Karachi and Mirpurkhas, Pakistan, from April 2019 to February 2020, after approval from Hamdard University, Karachi, and comprised physicians of either gender having direct patient contact. Data was collected using a questionnaire based on literature. The questionnaire was pilot-tested before distribution among the subjects. The responses were categorised with respect to age, gender and professional experience. Data was analysed using SPSS 25. Results: Of the 230 subjects, 119(51.7%) were females. The overall mean age was 34.5±8.8 years and mean professional experience was 9.1±8.2 years. Overall, 19(8.3%) subjects believed they had a very good ability to deliver bad news, while 26(11.3%) avoided telling the patient the truth about diagnosis, prognosis and treatment. Age had a significant association with correctly defining breaking bad news (p<0.05). Conclusion: The skill level related to breaking bad news was found to be deficient. Key Words: Breaking bad news, Communication, Pakistan.

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Objectives: Basal cell carcinoma (BCC) is the most common cutaneous malignancy in white population. The pattern of exon specific p53 mutations in BCC and its subtypes remain undetected in our population. This study was designed to evaluate the prevalence and mutational spectrum of p53 mutations in basal cell carcinoma (BCC) and its subtypes in people of color in the population of Karachi, Pakistan. Study Design: Retrospective cross sectional study. Setting: Department of Pathology, Basic Medical Sciences Institute, Jinnah Post Graduate Medical Center Karachi, Pakistan. Period: Five-year study from January 2012 to December 2016. Material and Methods: Convenient sampling technique was used. Sample size was calculated using open EPI software. Analysis of 32 BCC cases for p53 gene mutations in exons 5-8 was detected by polymerase chain reaction technique. Sebaceous carcinoma and malignant melanoma were used as positive controls and normal skin was used as negative control. Results: Out of 32 BCC cases, 26 (81.2%) displayed p53 exon mutations. The number of cases with single exon mutation was 17 (65.3%). Exon 5 mutation was most frequently observed in 8 (30.7%) cases. This was followed by 5 (19.2%) cases with exon 6 mutation and 4 (15.3%) cases with exon 8 mutation. None of the cases revealed exon 7 mutation. A considerable number 9 (34.6%) of BCC displayed dual exon mutation.  Dual mutations of exon 6 & 8 were seen in 6 (23%) cases. Exon 5 & 7 mutation was noted in 2 (7.6%) cases followed by a single (3.8%) case with exon 6&7 mutation. The highest number 12 (46.1%) of single and dual exon mutations was recorded in nodular subtype of BCC. Conclusion: The current study confirms the expression of p53 gene mutation in BCC in colored population. Majority of the single mutations were observed in exon 5. Dual exon mutation was the most notable finding of this study. The highest number of single and dual exon mutations was recorded in nodular form of BCC.

Background: The present study evaluated the chromosomal and molecular variations in patients of acute myeloid leukemia (AML) and acute lymphoid leukemia (ALL). Methods and Materials: A cross-sectional study was conducted at the Department of Oncology at a tertiary care center between April 2018 and June 2021. A total of 314 cases of acute myeloid and lymphoid leukemias were evaluated. Molecular and cytogenetic tests were conducted on these patients. Peripheral and bone marrow smears of all the subjects were sent to the laboratory for molecular and cytogenetic studies. The diagnosis was confirmed with morphology and specific staining, such as Gimsa, myeloperoxidase, molecular, and cytogenetic findings. The results of BM karyotype were classified as normal diploid, hypo and hyper diploid, complex karyotype, and pseudo-diploid. Data was explored using Statistical Package for the Social Sciences (SPSS) version 26. Results: A total of 314 patients were included in the study. Around 40 percent were diagnosed with AML while the 60% had ALL. The mean age of patients was 31.5 +/- 5.6 years. The karyotype revealed that 55.4% were normal diploid, 5.2% were hypo-diploid, 8.4% were hyper-diploid, 18.54% were pseudo-diploid, and the remainder had complex karyotype. A significant difference was observed between the acute leukemia and mean age (P < 0.001). The mean age of acute myeloid leukemia (AML) patients was significantly higher than acute lymphoid leukemia (ALL). The pseudodiploid pattern was meaningfully more frequent in the AML patients compared with that in the MDS and ALL patients (P < 0.001). Chromosomal abnormalities including monosomy of chromosome 14 and trisomy of chromosome 3 were the most prevalent. Conclusion: The current study revealed the variations in the chromosomal abnormalities in patients with acute myeloid leukemia (AML) and acute lymphoid leukemia (ALL). The specific patterns associated with particular leukemia can help establish early diagnosis. Keywords: acute myeloid leukemia, acute lymphoid leukemia, chromosome, hematology, malignancy