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Cenani-Lenz syndactyly syndrome (CLSS; MIM-212780) is a rare autosomal recessive limb malformation characterized by complete osseous fusion of all fingers and toes, disorganization of phalangeal elements and severe shortening of the radius and ulna. It is occasionally associated with renal hypoplasia, oro-facial defects, scoliosis of the thoracic spine, hearing loss, and genital anomalies. Here we describe a consanguineous Pakistani kindred with a severe form of CLSS characterized by complete syndactyly and disorganization of fingers, oligo-syndactyly of toes, shortening of limbs, frontal bossing, and hypoplasia/agenesis of left kidney. The affected individuals were additionally presented with short stature, cleft-lip and hypoplastic shoulder joint with restricted upper limb movement. A novel splice variant in LRP4 (c.316+1G > A) segregated with the phenotype in a five generations family. The mutation is predicted to add 29 non-native amino acids with a premature termination, resulting in approximately 90% length reduction of the wild-type transcript. These findings not only further expand the phenotypic variability of CLSS but also indicate that early truncated and loss-of-function mutations in LRP4 lead to a more severe CLSS phenotype. [ABSTRACT FROM AUTHOR]

Livestock plays a vital role in economic development of a nation and is being used in agriculture for draft power, production of farmyard manure as well as milk and meat production. Bovine hypodermosis is the top culprit among all parasitic infections across the world. Hypodermosis is an endemic disease in the mountainous areas/plain areas and is regularly observed in the northern hemisphere of the globe affecting cattle, deer, yaks and buffaloes. There is a wide variation in geographical distribution of Hypoderma spp. during the years 1945–2015. The manuscript includes a geospatial study that tries to maps the global distribution of hypodermosis in different areas of the world in order to detect hotspots or endemic areas that may be a potential source for disease spread. This information’s are very useful to predict the potential high risk areas that are prone to disease outbreak. The present review aims to evaluate the global distribution, molecular discrimination, diagnostics and vaccination of hypodermosis, focusing on its current status and future perspectives towards the management of the disease and its control strategies. [ABSTRACT FROM AUTHOR]

The esophageal atresia (EA) with distal fistula is the most common type of EA and is easily diagnosed by frothy discharge from mouth and nose, respiratory distress and coiling of nasogastric tube in the upper esophagus. The EA with double fistula (proximal and distal) is the least common type of EA which can easily be ignored preoperatively and intraoperatively. So it offers diagnostic challenge. Herein, we present a case of EA with double fistula in which the proximal fistula was not preoperatively appreciated by us, but identified during dissection. [ABSTRACT FROM AUTHOR]

Circular RNAs (circRNAs) have been recognized as key components in the intricate regulatory network of the KRAS pathway across various cancers. The KRAS pathway, a central signalling cascade crucial in tumorigenesis, has gained substantial emphasis as a possible therapeutic target. CircRNAs, a subgroup of non-coding RNAs known for their closed circular arrangement, play diverse roles in gene regulation, contributing to the intricate landscape of cancer biology. This review consolidates existing knowledge on circRNAs within the framework of the KRAS pathway, emphasizing their multifaceted functions in cancer progression. Notable circRNAs, such as Circ_GLG1 and circITGA7, have been identified as pivotal regulators in colorectal cancer (CRC), influencing KRAS expression and the Ras signaling pathway. Aside from their significance in gene regulation, circRNAs contribute to immune evasion, apoptosis, and drug tolerance within KRAS-driven cancers, adding complexity to the intricate interplay. While our comprehension of circRNAs in the KRAS pathway is evolving, challenges such as the diverse landscape of KRAS mutant tumors and the necessity for synergistic combination therapies persist. Integrating cutting-edge technologies, including deep learning-based prediction methods, holds the potential for unveiling disease-associated circRNAs and identifying novel therapeutic targets. Sustained research efforts are crucial to comprehensively unravel the molecular mechanisms governing the intricate interplay between circRNAs and the KRAS pathway, offering insights that could potentially revolutionize cancer diagnostics and treatment strategies. [Display omitted] [ABSTRACT FROM AUTHOR]

Ulcerative colitis (UC) is a persistent inflammatory condition affecting the colon's mucosal lining, leading to chronic bowel inflammation. Despite extensive research, the precise molecular mechanisms underlying UC pathogenesis remain elusive. NcRNAs form a category of functional RNA molecules devoid of protein-coding capacity. They have recently surfaced as pivotal modulators of gene expression and integral participants in various pathological processes, particularly those related to inflammatory disorders. The diverse classes of ncRNAs, encompassing miRNAs, circRNAs, and lncRNAs, have been implicated in UC. It highlights their involvement in key UC-related processes, such as immune cell activation, epithelial barrier integrity, and the production of pro-inflammatory mediators. ncRNAs have been identified as potential biomarkers for UC diagnosis and monitoring disease progression, offering promising avenues for personalized medicine. This approach may pave the way for novel, more specific treatments with reduced side effects, addressing the current limitations of conventional therapies. A comprehensive understanding of the interplay between ncRNAs and UC will advance our knowledge of the disease, potentially leading to more effective and personalized treatments for patients suffering from this debilitating condition. This review explores the pivotal role of ncRNAs in the context of UC, shedding light on their possible targets for diagnosis, prognosis, and therapeutic interventions. [ABSTRACT FROM AUTHOR]

• Cystic echinococcosis (CE) is a neglected zoonotic disease in Pakistan • CE is becoming a serious public health concern in many parts of the world, including Pakistan. • The current review highlights the epidemiology, diagnosis, and treatment of CE in Pakistan. Cystic echinococcosis (CE) is a zoonotic disease that occurs in humans and ungulates due to infection with the larval stage of the taeniid cestode Echinococcus granulosus sensu lato. It has been estimated that approximately one million people are infected annually, resulting in US$3 billion in human and livestock-associated direct and indirect losses per year. CE is a serious public health concern in many parts of the world, including Pakistan. This review discusses the causative agent as well as the epidemiology, diagnosis, and treatment of CE in Pakistan. [ABSTRACT FROM AUTHOR]