Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.

CSMD1 (Cub and Sushi Multiple Domains 1) is a well-recognized regulator of the complement cascade, an important component of the innate immune response. CSMD1 is highly expressed in the central nervous system (CNS) where emergent functions of the complement pathway modulate neural development and synaptic activity. While a genetic risk factor for neuropsychiatric disorders, the role of CSMD1 in neurodevelopmental disorders is unclear.

Plasma Proteomic Signature of Endometrial Cancer in Patients with Diabetes.

The incidence and mortality of endometrial cancer (EC) have increased in recent years. There is mounting evidence that diabetes may play a role in the greater incidence of EC. The molecular mechanisms of the interaction between type 2 diabetes and EC are not yet clearly understood yet.

Precision in Dermatology: Developing an Optimal Feature Selection Framework for Skin Lesion Classification.

Melanoma is widely recognized as one of the most lethal forms of skin cancer, with its incidence showing an upward trend in recent years. Nonetheless, the timely detection of this malignancy substantially enhances the likelihood of patients' long-term survival. Several computer-based methods have recently been proposed, in the pursuit of diagnosing skin lesions at their early stages.

Early Cytokine Signatures of Hospitalized Mild and Severe COVID-19 Patients: A Prospective Observational Study.

Background: The severe manifestation of coronavirus disease 2019 (COVID-19) is known to be mediated by several cytokines and chemokines. The study aimed to compare the early cytokine profile of mild and severe COVID-19 patients to that with COVID-19-like symptoms and tested negative for Severe Acute Respiratory Syndrome Coronavirus-2 in the Reverse-Transcriptase Polymerase Chain Reaction (RT-PCR) test.

Methods: This was a prospective, observational study on COVID-19 patients admitted to King Khalid University Hospital, King Saud University Medical City from June to November 2020.

Prevalence of QT prolongation and its risk factors in patients with type 2 diabetes.

Background: QT prolongation increases cardiovascular mortality in diabetes. The risk factors for QT prolongation vary across different studies. There is no data on the QT prolongation in patients with diabetes from the Arab region, where diabetes is highly prevalent.

Urinary Proteome Differences in Patients with Type 2 Diabetes Pre and Post Liraglutide Treatment.

Diabetes mellitus is a chronic multisystem disease with a high global prevalence. The glucagon-like peptide-1 (GLP-1) receptor agonist liraglutide is known to lower glucose levels and reduce weight. However, the mechanisms underlying the benefits of liraglutide treatment in patients with type 2 diabetes mellitus (T2DM) remain unclear.

Identification and Analysis of a Homozygous Nonsense Variant in Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.

Background and Objectives: Lamellar ichthyosis is a rare skin disease characterized by large, dark brown plate-like scales on the entire body surface with minimum or no erythema. This phenotype is frequently associated with a mutation in the TGM1 gene, encoding the enzyme transglutaminase 1 which plays a catalytic role in the formation of the cornified cell envelop. The present study aimed to carry out clinical and genetic characterization of the autosomal recessive lamellar ichthyosis family from Balochistan.

Clinical and biochemical characteristics of people experiencing post-coronavirus disease 2019-related symptoms: A prospective follow-up investigation.

Background: Post-acute coronavirus disease 2019 (COVID-19) syndrome, also known as long COVID, is a prolonged illness after the acute phase of COVID-19. Hospitalized patients were known to have persisting symptoms of fatigue, headache, dyspnea, and anosmia. There is a need to describe the characteristics of individuals with post-COVID-19 symptoms in comparison to the baseline characteristics.

An expansion of phenotype: novel homozygous variant in the identified in patients with progressive microcephaly and global developmental delay.

Global developmental delay (GDD) is a lifelong disability that affects 1-3% of the population around the globe. It is phenotypically variable and highly heterogeneous in terms of the underlying genetics. Patients with GDD are intellectually disabled (ID) manifesting cognitive impairment and deficient adaptive behavior.

A Hybrid Preprocessor DE-ABC for Efficient Skin-Lesion Segmentation with Improved Contrast.

Rapid advancements and the escalating necessity of autonomous algorithms in medical imaging require efficient models to accomplish tasks such as segmentation and classification. However, there exists a significant dependency on the image quality of datasets when using these models. Appreciable improvements to enhance datasets for efficient image analysis have been noted in the past.

Proteomic profiling of thyroid tissue in patients with obesity and benign diffuse goiter.

Goiter is a term to describe the enlargement of the thyroid gland. The pathophysiology and molecular changes behind development of diffuse benign goiter remains unclear. The present study targeted to identify and describe the alterations in the thyroid tissue proteome from patients (obese euthyroid) with benign diffuse goiter (BDG) using proteomics approach.

Determinant of Osteopontin Levels in Microvascular Complications in Patients with Diabetes.

Background: Osteopontin (OPN) is a 44-kDa multifunctional protein and has a diverse role in biomineralization, tissue remodeling, and chronic inflammation. However, its role in type 2 diabetes (T2D) patients with microvascular complications is not clear. Therefore, the present study aimed to investigate the role of OPN in T2D patients with microvascular complications.

Proteomic Analysis of Endometrial Cancer Tissues from Patients with Type 2 Diabetes Mellitus.

Endometrial cancer (EC) is the most common form of gynecological cancer. Type 2 diabetes mellitus is associated with an increased risk of EC. Currently, no proteomic studies have investigated the role of diabetes in endometrial cancers from clinical samples.

Comparison of Different Machine Learning Techniques to Predict Diabetic Kidney Disease.

Background: Diabetic kidney disease (DKD), one of the complications of diabetes in patients, leads to progressive loss of kidney function. Timely intervention is known to improve outcomes. Therefore, screening patients to identify high-risk populations is important.

Cytokines Involved in COVID-19 Patients with Diabetes: A Systematic Review.

Background: Hyperglycemic condition and compromised immune system may contribute to the progression of COVID-19 infection and increase the disease severity, relatively requiring a longer recovery period among diabetic patients.

Objective: A systematic review was conducted to examine cytokine levels, the prevalence of risk factors, and other comorbidities in COVID-19 patients with and without diabetes mellitus during the early COVID-19 outbreak.

Methods: A systematic literature search was conducted in PubMed central, PMC Europe databases, and Web of Science, evaluating the articles published between Dec 1st, 2019, and June 15th, 2020.

Risk Predictors of High Uric Acid Levels Among Patients with Type-2 Diabetes.

Objective: Patients with diabetes are at higher risk of the negative consequences of hyperuricemia. The objective of this study was to investigate gender and age-specific differences in the uric acid levels and to evaluate the associated risk factors among patients with diabetes.

Methods: A retrospective cross-sectional study was conducted at Strategic Center for Diabetes Research from September 2019 to January 2020, among adult type-2 diabetic patients.

Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.

Fetal abnormalities are detected in 3% of all pregnancies and are responsible for approximately 20% of all perinatal deaths. Chromosomal microarray analysis (CMA) and exome sequencing (ES) are widely used in prenatal settings for molecular genetic diagnostics with variable diagnostic yields. In this study, we aimed to determine the diagnostic yield of trio-ES in detecting the cause of fetal abnormalities within a highly consanguineous population.

Controversy on the management of patients carrying RET p.V804M mutation.

Context: RET p.V804M is classified as a moderate risk mutation for familial medullary thyroid cancer (FMTC). There is a significant controversy on the management of patients carrying this mutation.

Clinical and biochemical characteristics and outcomes of suspected COVID-19 hospitalized patients: RT-PCR swab positive and negative comparison.

Background: COVID-19 is diagnosed using RT-PCR assays of samples from nasal and oropharyngeal swabs. People with negative RT-PCR often presented with clinical manifestations of COVID-19. The data on such patients are lacking.

Effect of a very low-carbohydrate ketogenic diet vs recommended diets in patients with type 2 diabetes: a meta-analysis.

Context: There is renewed interest in using very low-carbohydrate ketogenic (VLCK) diets to manage diabetes. Many clinical trials have been published, often with mixed results.

Objective: This meta-analysis compares the effect of a VLCK diet on glycemic control, body weight, lipid profile, medication use, and dropouts with that of recommended diets for 12 weeks or longer in people with type 2 diabetes.

Topological Properties of Sierpinski Network and its Application.

Background: Sierpinski graphs S(n, k) are largely studied because of their fractal nature with applications in topology, chemistry, mathematics of Tower of Hanoi and computer sciences. Applications of molecular structure descriptors are a standard procedure which are used to correlate the biological activity of molecules with their chemical structures, and thus can be helpful in the field of pharmacology.

Objective: The aim of this article is to establish analytically closed computing formulae for eccentricity-based descriptors of Sierpinski networks and their regularizations.

Prevalence and associated risk factors of Shigella flexneri isolated from drinking water and retail raw foods in Peshawar, Pakistan.

This study was designed to investigate the prevalence and associated risk factors of Shigella flexneri isolated from drinking water and retail raw food samples in Peshawar, Pakistan. A total of 1,020 different samples were collected from various areas of Peshawar between January 2016 and May 2017, followed by identification of S. flexneri through biochemical, serological, and 16S rRNA gene sequencing.

Pharmacological Treatment of Diabetic Peripheral Neuropathy: An Update.

Neuropathy is the most common complication of diabetes. 50% of adults with diabetes will develop neuropathy in their lifetime. Diabetic peripheral neuropathy (DPN) is the major form of neuropathy found in 75% of diabetic neuropathy incidences.

Corticosteroid use in viral pneumonia: experience so far and the dexamethasone breakthrough in coronavirus disease-2019.

Dexamethasone was shown to decrease the mortality in coronavirus disease-2019 (COVID-19) recently. Use of corticosteroids was harmful in other coronavirus infections previously. WHO recommended against routine use of corticosteroids in COVID-19.