Inborn errors of metabolism (IEMs) are a diverse collection of single-gene abnormalities that interfere with metabolic pathways and can lead to multisystem disease throughout an individual's life. Management strategies have transitioned from primarily supportive care and dietary modification to disease-modifying interventions, encompassing enzyme replacement therapy (ERT), substrate reduction, pharmacological chaperones, organ and haematopoietic transplantation, cystostatic/cofactor therapies, and rapidly advancing genetic therapies, including gene addition, haematopoietic stem cell gene therapy, and genome editing. The extension of newborn screening, the development of better diagnostic tools (such tandem mass spectrometry and next-generation sequencing), and a better understanding of how diseases progress have all made it possible to start treatment earlier and give patients more personalised care. There are still problems, such as different levels of effectiveness in different organ systems (particularly the CNS), high treatment costs, restricted access around the world, and ethical and regulatory challenges for new treatments. Future directions encompass targeted gene correction, enhanced safety and efficacy of gene delivery technologies, optimised intervention timing (pre-/neonatal), improved blood-brain barrier (BBB) delivery, and worldwide implementation strategies to assure equity.
Hypertension is a major public health problem all over the world. In Bangladesh it is in increasing trend. No part (urban or rural) is immune. This survey based epidemiological work was carried out at rural areas of northern part of Bangladesh irrespective of gender and race. The study subjects were selected conveniently from health camp. The mean SBP and DBP were 125.89±18.17 mmHg and 76.29±13.31 mmHg, respectively. Prevalence of hypertension was 39.75%. The average SBP was 126.48±18.11 mmHg in men and 122.07±14.61 mmHg in women. The average DBP was 82.34±13.42 mmHg in men and 76.0±11.24 mmHg in women. Holistic preventive measurement is necessary to stop high blood pressure.
Background: Polycystic ovary syndrome (PCOS) is a significant and common obesity-related comorbidity that manifests in girls and women who are genetically prone to it Aim: This study aims to investigate the effect of socio-demographic characteristics for infertility, overweight, and polycystic ovary syndrome on lifestyle habits. Subjects and Methods: A purposive sample of 116 women with infertility, overweight, and obesity with polycystic ovary syndrome who attended Beni-Suef University Hospital was used. An Arabic structured interviewing questionnaire contains sociodemographic characteristics and data about nutrition habits. Results: Figure 5 shows 77.4% & 77.8% of poor nutrition habits of the study group women are 20-25 years old & have primary education before intervention, compared to 25.8% & 84.4% of good habits & higher education after intervention. Conclusion: Socio-demographic characteristics positively affected lifestyle habits for infertile, overweight, and polycystic ovary syndrome women. Recommendations: Design and disseminate brochures. Work on the health effects and importance of lifestyle modification among women in health centers and hospitals.
Hypertension is a major public health problem all over the world. In Bangladesh it is in increasing trend. No part (urban or rural) is immune. This survey based epidemiological work was carried out at rural areas of northern part of Bangladesh irrespective of gender and race. The study subjects were selected conveniently from health camp. The mean SBP and DBP were 125.89±18.17 mmHg and 76.29±13.31 mmHg, respectively. Prevalence of hypertension was 39.75%. The average SBP was 126.48±18.11 mmHg in men and 122.07±14.61 mmHg in women. The average DBP was 82.34±13.42 mmHg in men and 76.0±11.24 mmHg in women. Holistic preventive measurement is necessary to stop high blood pressure.
Philadelphia chromosome-positive (Ph+) B-cell acute lymphoblastic leukemia (B-ALL) by the t(9;22)(q34;q11.2) translocation produces the BCR-ABL fusion gene and tends to have an aggressive clinical course. Here, we report a case of a 59-year-old woman with B-ALL carrying a complex karyotype with trisomy 5 (+5) and monosomy 20 (-20) in addition to the classical Ph chromosome. This report summarizes the clinical presentation, hematological and immunophenotypic features, extensive cytogenetic and molecular diagnosis, treatment regimen, and prognostic significance. The coexistence of other chromosomal abnormalities most probably reflects clonal evolution and is associated with a worse prognosis, emphasizing the importance of tailored therapy including tyrosine kinase inhibitors and strict molecular follow-up.
