Author name: admin

1.1. Introduction: Due to the insufficiency of understanding about Dominant Arteriopathy with Subcortical Infarcts and Leukoen cephalopathy (CADASIL) in general clinical studies, the process of diagnosis for most CADASIL patients is complex and often prolonged. The disease’s symptomatic heterogeneity, which hap pens frequently even among family members, increases the com plexity of diagnosis. 1.2. Methods: In vitro analysis was carried out by Whole Exome Sequencing (WES) for a 2-year-old boy. He had ataxia, develop mental delay, delayed speech and language development, and au tistic behaviors. Mutational confirmations were also done on both of his parents to find the genotypes. Also, bioinformatics predic tions were performed by SWISS-MODEL, ProSA, Molprobity, and superimposition through MatchMaker in Chimera ver. 1.16. 1.3. Results: WES analysis uncovered a novel de novo missense mutation in the HTRA1 gene (exon1:c.320C>T:p.A107V) in the case. Mutation conformations documented the homozygosity of the normal allele in both of the case’s parents. Superimposition predictions suggested two beta-sheet unfolded in the mutant model (T allele or Val107). 1.4. Conclusion: Consequently, in an autosomal dominant pattern of genetic inheritance, the current study described a novel de novo mutation in the HTRA1 gene (A107V) associated with neurologi cal features such as painful ataxia, and developmental and speech delays. Pain management is necessary in this case and future cases with the same symptoms.

1.1. Introduction: Previous studies have examined the impacts of PAX6 mutations on a wide range of eye impairments. Because of the PAX6 protein’s binding functions, alterations in its structure may prevent it from correctly connecting with the DNA molecule. 1.2. Materials and Methods: Whole Exome Sequencing [WES] was used to perform in vitro analysis on a 30-year-old woman who sent to a genetic laboratory for PND. Her spouse had clear seri ous vision problems. To determine the genotypes, both her spouse and her husband’s sister underwent mutation confirmation tests. In silico predictions were also conducted using SWISS-MODEL, ProSA, Molprobity, and SuperPose. 1.3. Results: WES analysis revealed a new frameshift of the PAX6 gene [exon5:c.11delG:p.S4fs] and a missense mutation in the EYA1 gene [exon14:c.C1309T:p.R437C] in a 30-year-old wom an. Mutation conformations represented the heterozygosity for the PAX6 mutation in both the husband and his sister. Further in silico predictions showed a distinct deleted part of PAX6 resulted from the frameshift mutation compared with the normal allele. 1.4. Conclusion: Altogether, for the first time, our report intro duced two new mutations in the PAX6 and EYA1 genes associated with severe signs of anterior segmental dysgenesis with cataract and corneal dystrophy in an Iranian family based on an autosomal dominant pattern of genetic inheritance.

Bacteremia due to S.Rubidaea is rarely described comparing with other species of Enterobacteriacae. It interests immunocompro mised patients undergoing invasive procedures. Herein, we report four cases of bacteraemia due to this pathogen in patients admitted in ICU for ketoacidosis with history of diabetes mellitus.Common ly, a catheter-related infection complicated with deep vein throm bosis was present. Catheter site was femoral in all four cases. All patients were female. Commonly, a poorly-tolerated fever was the main clinical manifestation. The pathogen was isolated in several peripheral blood cultures (>4) for the same patient with the same profile in all four cases.

Human height is determined by genetics and “supply of inputs to health” (Steckel, 1995) [1]. In most econometric investigations, mean height of young adults is regressed against average supply(- consumption) of essential nutrients, such as animal protein, in the final stage of human growth, say the late-adolescents (Baten, 2009; Beer, 2012; Grasgruber et al.,2016; etc.) [2-4]. A number of human biologists refer to the importance of “the first years of life”, including the gestation period (Cole, 2003; Deaton, 2007; also many pediatricians)[5, 6]. A recent human biology study con cludes, “most of the height increment seen in adults had already accrued to the age 1.5 years” (Cole and Mori, 2017) [7]. The A/P/C approach contains cohort elements which cover the supply of in puts to health from birth to the current years of investigation on top of elements of age and period. This study analyzes a series of mean height surveys by age, male and female, provided by CNSSCH [8], Chinese government, 1985 through 2019, by five-year inter vals. There are two models at hand, Bayesian(Nakamura, 1986) [9] and IT(Yang Y. et al., 2008) [10]1. 1 For the past decades, the author has employed these two models in running cohort analyses of consumption of various food prod ucts with technical advice from mathematical statisticians (Clason; Saegusa). He is in no position to assert which model is superior. Whenever he had problems in running the programs, Clason and Saegusa have assisted him, in upgrading or refining the Bayesian programs [11, 12].

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

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.

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.

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

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.

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.