Peutz-Jeghers syndrome with polyps in the stomach, duodenum, and small and large intestine: a case report.

BACKGROUND: Peutz-Jeghers syndrome is a rare hereditary condition characterized by gastrointestinal polyps and pigmented oral lesions. The case contributes to a deeper understanding of Peutz-Jeghers syndrome and underscores the significance of interdisciplinary collaboration for accurate diagnosis and tailored therapeutic strategies. CASE DESCRIPTION: We present a case of a 15-year-old Afghan female patient with multiple polyps throughout the gastrointestinal tract and mucocutaneous pigmentation. Despite previous medical visits and colonoscopies, her symptoms persisted. A multidisciplinary team discussed the case and recommended further investigations and interventions. A polypectomy was performed, confirming the presence of hamartomatous polyps. The patient was diagnosed with Peutz-Jeghers syndrome, but during the course of treatment she went through complications and was managed surgically as well. CONCLUSION: Timely polyp removal and lifelong surveillance are crucial in managing Peutz-Jeghers syndrome. Further research and genetic analysis are needed to improve understanding and management of this rare disorder.

Evaluation of FamMed essentials: a blended-learning program for capacity building of general practitioners in Pakistan.

BACKGROUND: To provide access to primary care and universal health coverage, Pakistan requires 60,000 trained family physicians by 2030. At present, most primary care is provided by general practitioners (GPs) who do not have any post-graduate training. Empowering GPs through competency-based programs, that strengthen their knowledge and skills, may be a cost-effective strategy for improving healthcare quality. We describe the development and evaluation of FamMed Essentials, a modular, blended-learning program to improve clinical knowledge and skills of GPs. METHODS: This is a mixed method study. We used the CIPP (content, input, process and product) framework for course development and evaluation. We describe the steps used in content development, strategies for teaching and assessments, and evaluation of strengths and weaknesses of the program. In depth focus group discussions were conducted to gather insight on participants' and faculty's perceptions regarding the program's effectiveness. RESULTS: Of the 137 participants who have completed the program, 72% were women and 49% had been practicing for more than five years. We saw a significant improvement in knowledge across all modules (p = < 0.001) and perceived confidence in clinical skills (p = < 0.001). An objective assessment showed participants' competence in patient management. Participants reported a high level of satisfaction (4.4 ± 0.83 on a 5-point Likert Scale). Focus group discussions revealed a positive impact on clinical practice. Flexibility and use of different teaching and learning strategies were additional strengths. In addition, participants reported an interest in further training. Power outages were highlighted as a major challenge. CONCLUSION: In resource-constrained health systems, a modular, blended-learning, competency-based program is helpful to upgrade GPs knowledge without impacting their busy schedules. Accreditation of such programs and provision of a career trajectory for the trained GPs are pivotal to expansion of such initiatives.

Investigating the association of Angiotensin II Type I Receptor A1166C Polymorphism with Breast Cancer Risk in the Pakistani Population.

The polymorphisms of the Renin-Angiotensin System are related to many disorders like diabetes, cardiovascular disease, and different types of cancer. Among all the polymorphisms related to AGTR1, A1166C has been associated with several disorders, including cardiovascular diseases and breast cancer. This study was conducted to discover the association of AGTR1 polymorphism (A1166C) Renin-Angiotensin and its effect on the development and progression of breast cancer in the Pakistani population. One hundred forty participants, including seventy diagnosed breast cancer patients and seventy healthy individuals, were included in this study and genotyped with an allele-specific polymerase chain reaction. The most frequent genotype in healthy participants and breast cancer patients was CC. An insignificant (p value>0.05) risk of breast cancer was found with A1166C polymorphism in codominant (CC vs. AA OR=1.200 [0.256-5.631] and AC vs. AA 0.941 [OR=0.223-3.976]), dominant (OR=1.00 [0.240-4.167]), recessive (OR=1.230 [0.593-2.552]) and additive models (OR=1.028 [0.533-1.983]) of general population genotypes. Nonetheless, when the AA genotype was considered a reference group, a significant association was found between AC and CC genotypes and invasive ductal and ductal carcinoma development in breast cancer patients. In conclusion, this study demonstrated no significant association between AGTR1 (A1166C) polymorphism and breast cancer risk.

Hepatic tuberculosis with lower gastrointestinal symptoms mimicking hepatic metastasis: A rare case report.

INTRODUCTION AND IMPORTANCE: The co-occurrence of Mycobacterium tuberculosis (MTB) affecting both the lungs and abdominal viscera is quite common, but instances of isolated Hepatic tuberculosis (TB) without concurrent clinical signs of TB are exceedingly rare. CASE PRESENTATION: We present a case of a 55-year-old woman who complained of abdominal pain, weight loss, fever and changes in bowel habits. A definitive diagnosis of hepatic TB was made through microscopic examination, revealing necrotizing granulomatous inflammation accompanied by caseous necrosis. The patient received antitubercular therapy without experiencing any noticeable side effects during follow-up. CLINICAL DISCUSSION: Hepatic TB without active pulmonary TB is quite rare case. The patient presents with abdominal pain, fever, weight loss and jaundice. The diagnostic process includes CT (computerize tomography) imaging and subsequent biopsy to confirm it histopathologically. Following the same approach, we did biopsy from the targeted hepatic lesion that showed hepatic tuberculosis. In most cases it is treated with anti-tubercular drugs. However, some complicated cases might need surgical intervention. CONCLUSION: This case report highlights the significance of considering TB into account as a potential cause in patients with lower gastrointestinal symptoms in TB endemic areas by emphasizing the diagnostic challenges posed by hepatic tuberculosis with isolated liver involvement. In order to prevent serious complications of abdominal TB, early diagnosis and timely treatment is crucial.

Acute pancreatitis with chylous ascites mimicking acute appendicitis: A rare case report.

INTRODUCTION AND IMPORTANCE: Chylous ascites, characterized by the accumulation of lymphatic fluid in the peritoneal cavity, presents a significant diagnostic and management challenge, particularly in resource-limited settings. CASE PRESENTATION: We report a case of a 63-year-old female with acute abdominal pain who was initially diagnosed with acute perforated appendicitis. During open surgery, Chylous ascites was found with normal appendix and bulky pancrease with surrounding fluid accumulation. Drain was placed in lesser sac area and appendectomy was performed with drain placed in right iliac fossa. Recovery was uneventful. CLINICAL DISCUSSION: Chylous ascites can be challenging to diagnose, especially in resource-limited settings. Laboratory analysis and imaging studies play a critical role in establishing the diagnosis, while conservative measures and invasive interventions, if necessary, comprise the treatment strategy. CONCLUSION: Our case highlights the importance of considering chylous ascites as a potential differential diagnosis in acute abdomen cases. Accurate diagnosis and management can be particularly challenging in resource-limited settings, and increased awareness among clinicians and further research is necessary to improve outcomes for patients.

A Review: Molecular Chaperone-mediated Folding, Unfolding and Disaggregation of Expressed Recombinant Proteins.

The advancements in biotechnology over time have led to an increase in the demand of pure, soluble and functionally active proteins. Recombinant protein production has thus been employed to obtain high expression of purified proteins in bulk. E. coli is considered as the most desirable host for recombinant protein production due to its inexpensive and fast cultivation, simple nutritional requirements and known genetics. Despite all these benefits, recombinant protein production often comes with drawbacks, such as, the most common being the formation of inclusion bodies due to improper protein folding. Consequently, this can lead to the loss of the structure-function relationship of a protein. Apart from various strategies, one major strategy to resolve this issue is the use of molecular chaperones that act as folding modulators for proteins. Molecular chaperones assist newly synthesized, aggregated or misfolded proteins to fold into their native conformations. Chaperones have been widely used to improve the expression of various proteins which are otherwise difficult to produce in E. coli. Here, we discuss the structure, function, and role of major E. coli molecular chaperones in recombinant technology such as trigger factor, GroEL, DnaK and ClpB.