Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.

Purpose: Biallelic variants in TARS2, encoding the mitochondrial threonyl-tRNA-synthetase, have been reported in a small group of individuals displaying a neurodevelopmental phenotype but with limited neuroradiological data and insufficient evidence for causality of the variants.

Methods: Exome or genome sequencing was carried out in 15 families. Clinical and neuroradiological evaluation was performed for all affected individuals, including review of 10 previously reported individuals.

Referral System Challenges of the Family Physician Program in Iran: A Systematic Review.

Background: Iran has implemented the Family Physician Program (FPP) in 2005 in 4 provinces. This program was supposed to be expanded across the country; however, it faced various challenges. Considering the impact of the referral system on the quality of the FPP implementation, different studies were conducted to evaluate the performance of this system.

Pregnancy outcomes in in vitro fertilization in 17-alpha-hydroxylase deficiency.

Since the first case of 17-alpha-hydroxylase-deficiency (17-OHD) was described in 1966, a number of cases have been reported with a clinical picture of hypertension, hypokalemia, and hypogonadism. Infertility is a major concern for some of these individuals. This mini-review aims to detail the components of this disorder that affect fertility and focus on the recent acceleration in the success of achieving live births, as well as highlight the unsuccessful attempts.

High-Intensity Statin Therapy and Associated Rhabdomyolysis in Chronic Liver Disease: A Case Report and Review of Literature.

Current literature suggests an increased incidence of rhabdomyolysis in patients with chronic liver disease (CLD) compared to the general population. We present a case of a 60-year-old female with a history of non-alcoholic fatty liver disease and cirrhosis who developed rhabdomyolysis and acute kidney injury after starting high-intensity atorvastatin therapy. This case highlights the potential risks associated with high-intensity statin therapy in patients with CLD, particularly those with advanced liver dysfunction, emphasizing the need for cautious prescribing and thorough risk-benefit assessment in this vulnerable patient population.

Left anterior supramarginal gyrus activity during tool use action observation after extensive tool use training.

The advanced use of complex tools is considered a primary characteristic of human evolution and technological advancement. However, questions remain regarding whether humans possess unique underlying brain networks that support advanced tool-using abilities. Specifically, previous studies have demonstrated the presence of a structurally and functionally unique region in the left anterior supramarginal gyrus (aSMG), that is consistently active during tool use action observation.

The double-hit protocol induces HFpEF and impairs myocardial ubiquitin-proteasome system performance in FVB/N mice.

Heart failure with preserved ejection fraction (HFpEF) is a leading cause of death and disability, with its prevalence surpassing that of heart failure with reduced ejection fraction. Obesity and hypertension are often associated with HFpEF. HFpEF can be modeled through simultaneous metabolic and hypertensive stresses in male C57BL/6N mice provoked by a combination treatment of a high-fat diet (HFD) and constitutive nitric oxide synthase inhibition by Nω-nitro-L-arginine methyl-ester (L-NAME).

Near Two Decades of the Family Physician Program in Iran and the Structural Challenges: A Systematic Review.

The family physician program (FPP) is one of the most significant health care reforms in Iran; however, many studies showed that this program has not been able to achieve its intended objectives because of a variety of challenges. This program, despite the existing challenges, is going to be expanded across the country. To improve the likelihood of its success, identification of the structural and infrastructural challenges is necessary.

Management and Follow-Up of Biventricular Thrombi.

A thrombus is the most common intracardiac lesion. Isolated thrombi usually occur in the setting of ventricular dysfunction, such as a dyskinetic or hypokinetic myocardial wall, following an acute myocardial infarction (MI) or in cardiomyopathies (CM). Concurrent biventricular thrombus formation is rare.

Revolutionizing anti-tumor therapy: unleashing the potential of B cell-derived exosomes.

B cells occupy a vital role in the functioning of the immune system, working in tandem with T cells to either suppress or promote tumor growth within the tumor microenvironment(TME). In addition to direct cell-to-cell communication, B cells and other cells release exosomes, small membrane vesicles ranging in size from 30-150 nm, that facilitate intercellular signaling. Exosome research is an important development in cancer research, as they have been shown to carry various molecules such as major histocompatibility complex(MHC) molecules and integrins, which regulate the TME.

Panhypopituitarism and Central Hypothyroidism Presenting as Myoclonus and Hyperreflexia.

Panhypopituitarism may present with symptoms of predominantly one or more hormonal deficiencies. Central hypothyroidism usually presents with typical symptoms of hypothyroidism, such as fatigue, weight gain, menstrual abnormalities, bradycardia, thick, coarse skin, muscle fasciculations, and hyporeflexia, among others. Herein we present a case of central hypothyroidism along with panhypopituitarism presenting with unusual symptoms of tongue fasciculation, hyperreflexia, and myoclonic jerks.

Angioedema in the Absence of C1 Esterase Inhibitor Deficiency in a Young Patient With Anti-dsDNA Negative Lupus Nephritis.

Hereditary angioedema (HAE) is an autosomal dominant condition marked by a lack of functioning C1 esterase inhibitor (C1-INH). In contrast, acquired angioedema (AAE) due to a deficiency of C1 esterase inhibitor (AAE-C1-INH) may be the manifestation of an underlying lymphoproliferative, neoplastic, or autoimmune condition. Both are potentially fatal.

Rapid expansion of post traumatic syringomyelia following parathyroidectomy: A case report and review of the literature.

Background: Post-traumatic syringomyelia (PTS) is an uncommon complication of spinal cord injury (SCI) characterized by development of a fluid filled cavity in the spinal cord parenchyma. Presentation involves pain, weakness, and abnormal reflexes. There are few known triggers for disease progression.

Effects of alcohol use on sperm chromatin structure, a retrospective analysis.

Background: The evaluation of the infertile couple is often complex as multiple factors in both the male and female can contribute, including social history. Previous studies have displayed that male ethanol consumption can disturb sperm motility, nuclear maturity, and deoxyribonucleic acid (DNA) integrity. The main purpose of this study is to evaluate the effects of male alcohol use on sperm chromatin structure analysis (SCSA®).

FAM family gene prediction model reveals heterogeneity, stemness and immune microenvironment of UCEC.

Endometrial cancer (UCEC) is a highly heterogeneous gynecologic malignancy that exhibits variable prognostic outcomes and responses to immunotherapy. The Familial sequence similarity (FAM) gene family is known to contribute to the pathogenesis of various malignancies, but the extent of their involvement in UCEC has not been systematically studied. This investigation aimed to develop a robust risk profile based on FAM family genes (FFGs) to predict the prognosis and suitability for immunotherapy in UCEC patients.

Thoracic Myelopathy in a Teenager Caused by Stage IV Hodgkin's Lymphoma.

We report the case of a 19-year-old Native American woman who presented with bilateral lower extremity weakness due to spinal cord compression from late-stage Hodgkin's lymphoma. Hodgkin's lymphoma rarely has an initial presentation of spinal cord compression, except in cases of late-stage disease. The patient partially attributed her delayed pursuit of care to the difficulty of scheduling an appointment during the coronavirus (COVID-19) pandemic.

Glial Glutamate Transporter Modulation Prevents Development of Complete Freund's Adjuvant-Induced Hyperalgesia and Allodynia in Mice.

Glial glutamate transporter (GLT-1) modulation in the hippocampus and anterior cingulate cortex (ACC) is critically involved in nociceptive pain. The objective of the study was to investigate the effects of 3-[[(2-methylphenyl) methyl] thio]-6-(2-pyridinyl)-pyridazine (LDN-212320), a GLT-1 activator, against microglial activation induced by complete Freund's adjuvant (CFA) in a mouse model of inflammatory pain. Furthermore, the effects of LDN-212320 on the protein expression of glial markers, such as ionized calcium-binding adaptor molecule 1 (Iba1), cluster of differentiation molecule 11b (CD11b), mitogen-activated protein kinases (p38), astroglial GLT-1, and connexin 43 (CX43), were measured in the hippocampus and ACC following CFA injection using the Western blot analysis and immunofluorescence assay.