Frequency of pin tract infection among patients with tibia fracture treated with AO external fixator
1.1. Introduction: The management of open tibial fractures re mains a challenge for the orthopedic surgeons as various post-op erative complications are associated with external fixation of tibia fracture. 1.2. Objectives: To determine frequency of pin track infection among patients with tibia fracture treated with AO external fixator. 1.3. Material and Methods: This Descriptive case series study was carried out Department of Orthopedics, Medical Teaching In stitute Lady Reading Hospital from February , 2022 till December, 2022 on 110 Patients, aged 20 to 60 years of either gender with open fracture tibia Gustillo-Anderson type II or type IIIA were enrolled using non-probability consecutive sampling technique. All patients with tibia fracture underwent AO external fixation and reduction. Frequency of pin tract infection was noted. Data was entered and analyzed using SPSS 22. 1.4. Results: In our study 110 patients were enrolled with mean age of 36.7±11.5 years. There were 56.4% males and 43.6% fe male patients. Mean duration of injury was 14.6±7.6 hours. Hy pertension was present in 30.9% patients. Diabetes was present in 16.4% patients. Smoking was present in 36.4% patients. Obesity was present in 41.6% patients. Pin tract infection was present in 16.4% patients. 1.5. Conclusion: Our study concludes that the incidence of pin tract infection is high.
Investigation of Methylation Levels in OPRK1 Gene Promoter among Smokers and Opium-Addicts underwent Methadone Maintenance Treatment
1.1. Background: Previous studies reported the association of the OPRK1 gene with illicit substances, nicotine, and alcohol. The present study aimed to look at the methylation levels of OPRK1 gene promoter among smokers and addicts who underwent metha done maintenance treatment (MMT). 1.2. Methods: DNAs were extracted from the whole blood of all male samples including 30 smokers, 30 opium-addicted individu als undergoing methadone treatment, and 30 healthy people, and they were treated with a sodium bisulfite kit. The studied region included 53 CpG dinucleotides investigated by sequencing tech nique. 1.3. Results: Results of methylation levels in addicted individuals who underwent MMT compared with healthy people showed no difference. Also, there was no change in any CpG sites of OPRK1 gene promoter in both smokers and compared healthy controls. There was a significant difference in the mean age between opi um-dependent people and healthy controls (P=0.017). According to the findings of the statistical analysis, resident situation and li bido dysfunction were associated with methadone dose (P=0.032 and P=0.003, respectively). 1.4. Conclusion: Altogether, the study of methylation levels at OPRK1 gene promoter was not significant among smokers and in dividuals who underwent MMT compared to the healthy controls; additionally, methadone dosage had significant associations with demographical statuses in the MMT group.
Genetic work-up for the rare new mutations causing musculoskeletal and spine pain
1.1. Background: Spine pain is widespread due to degenerative disc disease and facet arthropathy. Most patients improve with supportive conservative care measures, including non-steroidal anti-inflammatories, physical therapy, short episodes of rest, and activity modification. Medical and interventional pain manage ment is reserved for those patients who do not improve within 4 to 6 weeks of standard spine care managed within the primary care setting, after which patients are typically referred to a specialist. Genetic conditions are rarely considered early in the differential diagnosis and may be easily missed in non-responsive patients. 1.2. Methods: We briefly de-scribe two illustrative cases of pa tients with a history of chronic musculoskeletal and spinal pain, whose delayed diagnosis led to improper utilization of medical resources until they were diagnosed correctly and targeted person alized care for their painful syndromes could be instituted. 1.3. Results: After a long history of physiotherapy for sever al years to alleviate muscular and spine pain, a patient with lack of proper control of the trunk and leg muscles causing difficul ties with getting up from a sitting position, walking, and climbing stairs was diagnosed with a new mutation in the KLHL40 gene associated with the pain syndrome of Nemaline Myopathy. A sec ond case a severe scoliosis with short femur leading to dwarfism through sonography investigations was diagnosed via mutation in exon 5 of the FGFR3 gene by WES and Sanger sequencing tests. An aborted fetus whose parents did not carry the mutant allele as sociated with Autosomal dominant thanatophoric dysplasia type I due to a de novo mutation of the FGFR3 gene associated with increased sensitivity of nociceptors such as TNF-α. 1.4. Conclusions: Genetic factors may play a more significant role in unrelenting musculoskeletal and spinal pain syndromes in indi viduals unresponsive to standard conservative care measures than previously thought. Genetic screening, counseling, and a combi nation of targeted interventions aimed at alleviating the harmful effect of the underlying gene defect and the disability associated with painful conditions of the musculoskeletal system affecting lo- http://www.acmcasereport.com/ 2 Volume 10 Issue 19 -2023 Case Report comotion and spinal deformity and balance should be considered early on mainly if the index of suspicion for an underlying genetic condition is high.
Investigation of Methylation Levels in COMT Gene Promoter among Smokers and Opium Addicted Individuals Undergoing Methadone Treatment
1.1. Background: Previous studies have demonstrated that the COMT gene is associated with alcohol, nicotine, and illicit sub stances. The aim of the present study was to examine the methyla tion status of a remarkable region in the COMT gene promoter in methadone-treated smokers and addicts. Methods: All male sam ples, including 30 smokers, 30 opium addicts receiving methadone treatment, and 30 healthy individuals, had their DNAs extracted from their whole blood and processed with a sodium bisulfite kit. 61 CpG dinucleotides were included in the study region and were sequenced. 1.2. Results: Results represented that within these CpG sites, only 25 CpG sites in the addicted group and 22 in the smoker group compared to the healthy controls indicated different methylation levels; however, none of these CpG sites had a statistically signif icant difference (P=0.281 and P= 0.329, respectively). The mean age of opium-addicted individuals and healthy controls had signif icant differences between the two groups (P=0.017). Demograph ical results revealed that methadone dosage correlated with the resident situation and libido dysfunction (P=0.032 and P=0.003, respectively). 1.3. Conclusion: In conclusion, the investigation of methylation levels at COMT gene promoter had no noticeable significance among smokers and methadone maintenance treatment (MMT) patients compared to the healthy controls; moreover, methadone dosage had significant correlations with demographical statuses in the MMT group.
Logistic Multiple Regression Analysis of CT Image Evaluation of Wrist Arthroscopy-assist ed Small Incision Treatment on Postoperative Healing and Wrist Function of Patients with Distal Radius Fractures
1.1. Objective: To assess the postoperative healing of patients with distal radius fractures treated with wrist arthroscopy-assisted small incision and its effect on wrist function using CT images combined with Logistic multiple regression analysis. 1.2. Methods: 166 patients with distal radius fracture were ran domly divided into control group (open reduction and internal fixation) and study group (wrist arthroscopy-assisted small inci sion treatment), with 83 cases for each group. All patients under went postoperative CT examination, Logistic multiple regression analysis was used to assess the recovery of wrist function, and the postoperative healing of the two groups was also assessed and compared. 1.3. Results: The operation time of the study group was longer than that of the control group, and the intraoperative blood loss and hospitalization time were less than those of the control group (P < 0.05); the fracture wound healing time in study group was shorter than that in control group, and disabilities of the arm, shoulder, and hand (DASH) score at 3 and 6 months after operation in study group was lower than that in control group (P < 0.05); the pain se verity, psychological status, independent ability, and life comfort score at 1, 3, and 6 months after operation in both groups were higher than those before treatment, and the score in study group was higher than that in control group (P < 0.05); CT image found that the palmar inclination angle and ulnar deviation angle in study group were greater than those in control group (P < 0.05). Logistic multiple regression analysis showed that operation time and blood loss could be used as independent factors affecting postoperative fracture healing and wrist joint function recovery in both groups (P
A Novel Heterozygous Mutation of Slc12a3 Gene in a Chinese Pedigree With Gitelman Syndrome
1.1. Objective: Gitelman syndrome (GS) is an autosomal reces sive tubular disorder characterized by metabolic alkalosis, hypo kalemia, hypomagnesemia and hypocalciuria. GS is mostly caused by inactivating mutations of the SLC12A3 gene. The purpose of this study was to describe the clinical features of a GS patient and investigate the underlying mutations of SLC12A3 gene in the ped igree. 1.2. Methods: A patient suffering from muscle weakness was clin ically diagnosed as GS. Clinical data of the proband were studied retrospectively. All of his family members were screened for SL C12A3 gene mutations. 26 exons and exon-intron boundaries of SLC12A3 gene were amplified by Polymerase Chain Reaction(P CR). PCR products were sequenced directly. 1.3. Results: The proband had hyperreninemia but hypoaldoster onemia, which was distinct from the cases previously reported. The proband and his sick brother were found to have the same compound heterozygous mutations (c.917C>T and IVS 14-8T>C) of SLC12A3 gene. Each mutation was detected in paternal and maternal genomic DNA, respectively. The proband’s healthy brother had one mutation (c.917C>T) only. IVS 14-8T>C was a novel splicing site mutation that had never been reported. 1.4. Conclusion: Hypoaldosteronemia was found in a GS patient. A novel heterozygous splicing site mutation of the SLC12A3 gene was reported, expanding the spectrum of SLC12A3 gene muta tions.
Comparison of Functional Outcomes of above Elbow Backslab Versus Close Reduction and Percutaneous Pinning in Supracondylar Humerus Fracture in Kids
Closed reduction and percutaneous pinning under image intensifi er is now the treatment of choice for most of the displaced supra condylar fractures of the humerus in children. 1.1. Objective: To compare the functional outcomes of above el bow backslab versus close reduction and percutaneous pinning in supracondylar humerus fracture in kids. 1.2. Materials And Methods: This Randomized Controlled Trial was conducted in the Department of Orthopedics, Lady Reading Hospital, Peshawar Pakistan from October 2022 to April 2023 on sixty patients (30 patients with closed reduction and percutaneous pinning = Group A, 30 patients with closed reduction and back slab= Group). Non – Probability Consecutive Sampling Technique was used. Patient age 5 to 14 years, Both genders and Patients pre senting within 48 hours after trauma with Gartland III supracondy lar humerus fracture as per operational definition were included in the study while Patients with open fracture, Patients with vascular injury and Patients with multiple humerus fractures were excluded from the study. 1.3. Results: Age of the patients ranged from 5 to 14 years. Mean age of the patients who received CRPP was 10.04±2.014 years while mean age of the patients who received Backslab was 11.04±1.323 years. Excellent outcomes were observed in 19 pa tients (63.3%) in CRPP group versus 17 patients (56.7%) in back slab group. 1.4. Conclusion: In pediatric patients presenting with type II and III supracondylar fractures, when compared to backslab, CRPP was associated with higher overall satisfactory results according to Flynn’s criteria.
Correlation of IL-6 and C-reactive protein levels with the stage, differentiation and types of colorectal cancer-A cross sectional study
Interleukin-6(IL-6) and CRP have been involved in anti-inflam matory reaction and autoimmune diseases. Interleukin is known for enabling cancer growth and is essential for tumour-directed immune response. CRP modulates inflammatory responses and stimulate platelet and leukocyte responses associated with acute phase responses to tumour growth. Its accumulation in blood is as sociated with a low-level inflammatory response and is indicative of advancing disease, as occurs in cancer
A Rare Case of Locally Advanced Sinonasal Lymphoepithelial Carcinoma
Sinonasal lymphoepithelial carcinoma (SLEC) is an extremely rare malignant tumor of the sinonasal tract. In this case report, we present a case with locally advanced disease of the posterior ethmoid cells. We also aim to review the clinical, radiological and pathological features, as well as the available treatment strategies, contributing to the literature of this rare malignancy. Our patient presented with unilateral nasal congestion, discharge, recurrent epistaxis, aural fullness, diplopia and visual disturbance. Imaging revealed an extensive osteolytic lesion of the right nasal cavity with intraorbital and intracranial invasion. Histopatholog ical examination of posterior ethmoid cell mucosa demonstrated undifferentiated malignant cells, associated with lymphoplasma cytic infiltration, while the immunohistochemistry was positive for pancytokeratin. A final diagnosis of EBV-positive SLEC was rendered and the patient was treated with concomitant chemo-ra diotherapy. To our knowledge, this is the first case report of SLEC arising from the posterior ethmoid cells with invasion into the orbit and middle cranial fossa.
Rare Primary Thymic Т-Lymphoblastic Lymphoma In Childhood- Сlinical Case From Our Practice
As stated in the current World Health Organization classification, T-lymphoblastic leukemia/lymphoma is a neoplasm of lympho blasts committed to T-cell lineage involving bone marrow (BM), blood, or presenting as a tissue-based mass involving the thymus, lymph nodes, or extranodal sites. We present a 10 -year -old boy who is a family -burdened mucoviscidosis. Imaging studies report an extended anterior mediastinum. After the first biopsy, the final diagnosis is difficult, which significantly slows down the neces sary treatment. Prolonged treatment with corticosteroids and a heterozygous family-burdened mucoviscidosis is the cause of se vere chemotoxicity after one course of chemotherapy. This is the reason for the completion of treatment by consolidating involved site radiоtherapy. The primary thymic Non-Hodgkin lymphoma is a rare disease. Diagnosis is extremely difficult and requires a biopsy of the tu mor and bone marrow, strictly pathohistological and immunohis tochemical analysis, as well as imaging studies involving CT and PET/CT. The clinical case focuses on the difficult final diagnosis, as well as the need for consolidating involved site radiotherapy of mediastinal tumor mass with a radical dose with strictly preserving the adjacent normal tissues and organs.