Identification of Functional Variants Associated with Obesity in Pakistani Kindred

2020 ◽  
Vol 1 (1) ◽  
pp. 58-68
Author(s):  
Ayesha Aftab ◽  
Syed Babar Jamal ◽  
Syeda Marriam Bakhtiar
Keyword(s):  
Functional Analysis ◽  
Protein Stability ◽  
Treatment Strategies ◽  
Type Ii Diabetes Mellitus ◽  
Diagnosis And Treatment ◽  
Ratio Test ◽  
Processed Food ◽  
Pakistani Population ◽  
Functional Variants ◽  
Environmental Causes

Background: Obesity is an emerging pandemic considered to be an outcome of change in lifestyle owing to more processed food and the use of mechanical locomotives. Obesity has not only appeared as a problem in the esthetic appearance of an individual rather is a serious health issue due to its associations with various chronic diseases such as coronary and cardiovascular problems, hypertension, osteoarthritis, type-II diabetes mellitus, hyperlipidemia, and certain cancers. It is estimated that 30 percent of the world’s population, i.e. approximately 2.1 billion people, are victims of obesity. In addition to environmental causes, various genes and a group of genes are reported to be increasing the suceptibility of obesity. Objective: Pakistan is a heterogeneous population, an amalgam of various races, therefore, narrowing down the list of obesity-associated genes and their functional variance could help molecular biologists to select potential SNPs in the Pakistani population for molecular diagnosis and treatment. Method: The extraction of a set of obesity-associated genes has been performed by using Polysearch2. SNPs for each gene are retrieved from dbSNP. RegulomeDB and SNPinfo tools have been used for the functional analysis of SNPs retrieved against the Pakistani population. For the prediction of potential deleterious SNPs, SIFT, Polyphen-2, MUTTASTER, MUTASSESSOR, and LRT (likelihood ratio test) are utilized. Functional analysis of potential deleterious SNPs has been performed by studying protein stability and mapping of identified SNPs to protein structure. For the protein stability analysis, I-Mutant and SNPs3D have been used. Results: Four genes FTO, POMC, LEPR, and MC4R and further analysis revealed 3 deleterious SNPs in FTO, 4 in POMC, 1 in LEPR, and 1 in MC4R. Conclusion: This research was designed to identify obesity-associated genes and the most impactful deleterious SNPs in these genes. These findings will be helpful for the molecular biologists and pharmacists to design better and focused diagnosis and treatment strategies.

scholarly journals Anatomic variations of internal jugular vein, inferior petrosal sinus and its confluence pattern: Implications in inferior petrosal sinus catheterization

2015 ◽  
Vol 21 (6) ◽  
pp. 769-773 ◽  
Author(s):  
Xianli Lv ◽  
Zhongxue Wu
Keyword(s):  
Computed Tomography ◽  
Internal Jugular Vein ◽  
Jugular Vein ◽  
Treatment Strategies ◽  
Diagnosis And Treatment ◽  
Inferior Petrosal Sinus ◽  
Anatomic Variations ◽  
Review Of The Literature ◽  
Spiral Computed ◽  
Intracranial Lesions

Objective The purpose of this study is to describe anatomic variations of the internal jugular vein (IJV), inferior petrosal sinus (IPS) and their confluence pattern and implications in IPS catheterization. The anatomic route of IPS after going out of the cranium and its confluence patterns with IJV and will supply knowledge about typing of IPS-IJV junction. Method A review of the literature was performed. Results There might be different routes for entering the intracranial segment of the IPS and multislice spiral computed tomography (MSCT) is effective in identifying the confluences of the IPS with the IJV and their courses. It is important to find the confluence of IPS with IJV for diagnosis and treatment of intracranial lesions via venous route. Meanwhile, IPS diameter at the confluence can significantly affect success of catheterization. Conclusion The classification and the theory of the development of the caudal end of the IPS may be useful in establishing treatment strategies that involve endovascular manipulation via the IPS.

scholarly journals Concepts in cardio-oncology: definitions, mechanisms, diagnosis and treatment strategies of cancer therapy-induced cardiotoxicity

2016 ◽  
Vol 12 (6) ◽  
pp. 855-870 ◽  
Author(s):  
Chanaka D Wickramasinghe ◽  
Kim-Lien Nguyen ◽  
Karol E Watson ◽  
Gabriel Vorobiof ◽  
Eric H Yang
Keyword(s):  
Cancer Therapy ◽  
Treatment Strategies ◽  
Diagnosis And Treatment

Infectious and inflammatory complications after endoscopic hernioplasty in patients with postoperative ventral hernias: features of diagnosis and treatment strategies

2021 ◽  
Vol 23 (3) ◽  
pp. 157-164
Author(s):  
Valery V. Semenov ◽  
Sofya А. Prudyeva ◽  
Alexander A. Kurygin
Keyword(s):  
Negative Pressure ◽  
Negative Pressure Wound Therapy ◽  
Treatment Strategies ◽  
Repeated Administration ◽  
Early Postoperative Period ◽  
Diagnosis And Treatment ◽  
Wound Therapy ◽  
Active Growth ◽  
Surgical Interventions ◽  
Ventral Hernias

An algorithm for the diagnosis and treatment of infectious and inflammatory complications after endovideosurgical hernioplasty in patients with postoperative ventral hernias using traditional and minimally invasive methods of therapy was proposed. The study was based on the treatment results of 177 patients who underwent endovideosurgery for postoperative ventral hernias. Despite the perioperative antibiotic prophylaxis according to the accepted at the S.M. Kirov Military Medical Academy, according to the protocol scheme (first-generation cephalosporin at a dose of 1 g once parenterally 30 min before the operation, followed by repeated administration in case of operation duration of 3 h), course of the early postoperative period on days 35 in 8 (4,5%) patients after endovideosurgical hernioplasty was complicated by suppuration in the intervention area. When analyzing the causes of infectious and inflammatory complications, in both the main and control groups of observations, all suppuration in the area of surgical interventions was diagnosed in patients with metabolic syndrome (stages IIIII obesity and type 2 diabetes mellitus). The use of the negative pressure wound therapy resulted in wound cleansing for 4.1 2.5 days (p 0.05) and was comparable with the traditional method of treatment, but more active growth of granulation tissue prevailed in the wound, which contributed to its accelerated healing. The negative pressure wound therapy is effective in the systemic infectious and inflammatory process, especially after prosthetic hernioplasty of large W3-postoperative hernias. Drainage of abscesses under ultrasound navigation is possible with small (S 10 cm2) delimited purulent processes in the area of the polypropylene implant with the preservation of the latter.

scholarly journals Opinions on Dental Erosive Lesions, Knowledge of Diagnosis, and Treatment Strategies among Norwegian Dentists: A Questionnaire Survey

2012 ◽  
Vol 2012 ◽  
pp. 1-8 ◽  
Author(s):  
Aida Mulic ◽  
Simen Vidnes-Kopperud ◽  
Anne B. Skaare ◽  
Anne Bjørg Tveit ◽  
Alix Young
Keyword(s):  
Dental Health ◽  
Treatment Strategies ◽  
Erosive Wear ◽  
Preventive Treatment ◽  
Diagnosis And Treatment ◽  
Tooth Surface ◽  
Dietary History ◽  
Saliva Secretion ◽  
Anterior Teeth ◽  
Occlusal Surfaces

This study aimed to investigate dentists’ general experience, knowledge about diagnosis, and treatment of dental erosive wear in young adults. A questionnaire was sent to 1262 Norwegian public dental health-employed dentists. The response rate was 60%. Results indicated that most dentists recorded erosive wear, half of them used a specific scoring system, and half registered lesions at the tooth surface level. Lesions were reported most often on palatal surfaces of upper anterior teeth (79% of dentists), on occlusal surfaces of lower 1st molars (74%), and on upper 1st molars (32%). Half the dentists used clinical photographs for documentation and 60% made study models. While 40% reported more erosive lesions in males, 36% reported no gender differences. High intake of carbonated beverages and acidic juices were reported as the most common cause by 97% and 72% of the dentists, respectively. Only 21% of dentists recorded the patient’s dietary history, and 73% never measured saliva secretion. The majority (78%) of the dentists treated patients with erosive wear themselves. In general, the survey suggests that the dentists are relatively up to date regarding the clinical recording, diagnosis, and treatment of dental erosive wear. However, dietary and salivary analyses were not given priority, and early, preventive treatment was lacking.

scholarly journals CMV Colitis in Immunocompetent Patients: 2 Cases of a Diagnostic Challenge

2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
Maria Paparoupa ◽  
Viola Schmidt ◽  
Helgard Weckauf ◽  
Huy Ho ◽  
Frank Schuppert
Keyword(s):  
Crohn’S Disease ◽  
Unusual Case ◽  
Treatment Strategies ◽  
Diagnosis And Treatment ◽  
Diagnostic Challenge ◽  
Unsuccessful Treatment ◽  
Benign Stenosis ◽  
The Right ◽  
Cmv Colitis ◽  
Immunocompetent Patients

CMV infections are generally thought to be opportunistic by immunosuppression. Many literature cases though indicate that CMV infections can be also observed in immunocompetent patients. We present an unusual case of an extensive concentric benign stenosis due to CMV colitis and a case of coexistence with Crohn’s Disease, both observed in nonimmunosuppressed individuals. The right diagnosis was set after implementation of multiple unsuccessful treatment strategies. Our purpose is therefore to familiarize clinicians involved with the diagnosis and treatment of gastroenterological diseases with this entity.

Diagnosis and Treatment of Smoke Inhalation

1995 ◽  
Vol 10 (3) ◽  
pp. 117-127 ◽  
Author(s):  
Basil A. Pruitt ◽  
William G. Cioffi
Keyword(s):  
Current Knowledge ◽  
Treatment Strategies ◽  
Inhalation Injury ◽  
Smoke Inhalation ◽  
Diagnosis And Treatment ◽  
Laboratory Research ◽  
Individualization Of Therapy ◽  
Injured Patients

Inhalation remains the most frequent and serious comorbid event that occurs in thermally injured patients. A thorough understanding of the pathophysiology enables individualization of therapy and appropriate triage of patients. We summarize our current knowledge of the pathophysiology, diagnosis, and treatment of inhalation injury, with a focus on newer treatment strategies that are evolving secondary to laboratory research.

Diagnosis and Treatment of MODY: An Updated Mini Review

2021 ◽  
Vol 11 (20) ◽  
pp. 9436
Author(s):  
Abegail Tshivhase ◽  
Tandi Matsha ◽  
Shanel Raghubeer
Keyword(s):  
Type 2 Diabetes ◽  
Single Gene ◽  
Treatment Strategies ◽  
Diagnosis And Treatment ◽  
Endogenous Insulin ◽  
Appropriate Treatment ◽  
Mild Hyperglycemia ◽  
Onset Of Diabetes

Maturity-Onset Diabetes of the Young (MODY) is the most common form of monogenic diabetes resulting from a single gene mutation. It is characterized by mild hyperglycemia, autosomal dominant inheritance, early onset of diabetes (<25 years), insulin resistance, and preservation of endogenous insulin secretion. Currently, 14 MODY subtypes have been identified, with differences in incidence, clinical features, diabetes severity and related complications, and treatment response. This type of diabetes is mostly misdiagnosed as either type 1 or type 2 diabetes mellitus because it is difficult to differentiate between these forms of diabetes due to clinical similarities, the high cost of genetic testing, and lack of awareness. As a result, thousands of patients are not receiving appropriate treatment. Accurate diagnosis would allow for more effective therapeutic management and treatment strategies that are distinct from those used for type 1 and type 2 diabetes. This review serves to explore MODY subtypes, diagnosis, and treatment, and increase awareness of MODY incidence.

scholarly journals Hyponatremia in the Neurologically Ill Patient: A Review

2020 ◽  
Vol 10 (3) ◽  
pp. 208-216
Author(s):  
David P. Lerner ◽  
Starane A. Shepherd ◽  
Ayush Batra
Keyword(s):  
Traumatic Brain Injury ◽  
Subarachnoid Hemorrhage ◽  
Brain Injury ◽  
Early Diagnosis ◽  
Neurological Disorders ◽  
Aneurysmal Subarachnoid Hemorrhage ◽  
Treatment Strategies ◽  
Diagnosis And Treatment ◽  
Systemic Complications ◽  
Acute Presentation

Hyponatremia is a well-known disorder commonly faced by clinicians managing neurologically ill patients. Neurological disorders are often associated with hyponatremia during their acute presentation and can be associated with specific neurologic etiologies and symptoms. Patients may present with hyponatremia with traumatic brain injury, develop hyponatremia subacutely following aneurysmal subarachnoid hemorrhage, or may manifest with seizures due to hyponatremia itself. Clinicians caring for the neurologically ill patient should be well versed in identifying these early signs, symptoms, and etiologies of hyponatremia. Early diagnosis and treatment can potentially avoid neurologic and systemic complications in these patients and improve outcomes. This review focuses on the causes and findings of hyponatremia in the neurologically ill patient and discusses the pathophysiology, diagnoses, and treatment strategies for commonly encountered etiologies.

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