icf syndrome

BACKGROUND: There is no high-quality, evidence-based protocol for the treatment of postoperative fatigue syndrome (POFS) after total joint arthroplasty (TJA) or fracture surgery with Chinese herbal medicine (CHM). PURPOSE: The purpose of this study was to explore the efficacy of CHM in the treatment of POFS after TJA or hip fracture surgery (HFS). METHODS: We searched six databases to obtain randomized controlled trials (RCTs) of CHM for the treatment of POFS after TJA or HFS...

INTRODUCTION: Tofacitinib, a selective inhibitor of JAK1 and/or JAK3, is considered to alleviate the pulmonary condition of primary Sjögren's syndrome (pSS)-associated interstitial lung disease (ILD) through its anti-inflammatory and antifibrotic effects. METHODS AND ANALYSIS: This is a single-center, prospective, randomized, open-label trial. The trial will compare a 52-week course of oral tofacitinib with traditional therapy cyclophosphamide (CYC) combined with azathioprine (AZA) in the treatment of pSS-ILD...

Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare autosomal recessive disorder characterized by DNA hypomethylation and antibody deficiency. It is caused by mutations in DNMT3B, ZBTB24, CDCA7, or HELLS. While progress has been made in elucidating the roles of these genes in regulating DNA methylation, little is known about the pathogenesis of the life-threatening hypogammaglobulinemia phenotype. Here, we show that mice deficient in Zbtb24 in the hematopoietic lineage recapitulate the major clinical features of patients with ICF syndrome...

Xerostomia (dry-mouth syndrome) is a painful and debilitating condition that frequently occurs in individuals with diabetes and is associated with impaired saliva production and salivary gland hypofunction. Saliva fluid production relies on Ca2+ -coupled secretion driven by neurotransmitter stimulation of submandibular acinar cells. Although impairments in intracellular Ca2+ signalling have been reported in various xerostomia models, the specific Ca2+ -dependent mechanisms underlying saliva fluid hypofunction in diabetes remain unclear...

Non-Alzheimer's dementia (NAD) accounts for 30% of all neurodegenerative conditions and is characterized by cognitive decline beyond mere memory dysfunction. Diagnosing NAD remains challenging due to the lack of established biomarkers. Transcranial magnetic stimulation (TMS) is a non-invasive neurophysiological tool that enables the investigation of cortical excitability in the human brain. Paired-pulse TMS paradigms include short- and long-interval intracortical inhibition (SICI/LICI), intracortical facilitation (ICF), and short-latency afferent inhibition (SAI), which can assess neurophysiological functions of GABAergic, glutamatergic, and cholinergic neural circuits, respectively...

PURPOSE: The purpose of this cross-sectional evaluation was to determine the associations between raw bioelectrical impedance and cardiometabolic health parameters in a sample of young non-Hispanic White and African-American adults. METHODS: A total of 96 (F: 52, M: 44) non-Hispanic White (n = 45) and African-American adults (n = 51) between the ages of 19 and 37 (22.7 ± 3.83 y) completed several fasted assessments including resting systolic blood pressure (rSBP), blood glucose (FBG), blood lipids, and bioelectrical impedance spectroscopy (BIS)...

BACKGROUND: This study aimed to evaluate facial photoanthropometric parameters in patients with OI. MATERIAL AND METHODS: We selected 20 Brazilian patients diagnosed with OI treated at the Extension Service for Minors in Need of Specialized Treatment of the Dentistry Course at the Federal University of Ceará (Fortaleza, Brazil), of both sexes, without age restriction, and able to understand and sign the informed consent form (ICF). As a control group, 38 non-syndromic Brazilian individuals, categorized as ASA I, able to understand and sign the ICF, matched by sex, age, and Legan and Burstone facial profile were selected...

5-Methylcytosine (5mC) and DNA methyltransferases (DNMTs) are broadly conserved in eukaryotes but are also frequently lost during evolution. The mammalian SNF2 family ATPase HELLS and its plant ortholog DDM1 are critical for maintaining 5mC. Mutations in HELLS, its activator CDCA7, and the de novo DNA methyltransferase DNMT3B, cause immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome, a genetic disorder associated with the loss of DNA methylation. We here examine the coevolution of CDCA7, HELLS and DNMTs...

OBJECTIVE: Identify the predictors of social participation in Down Syndrome (DS) adults from the biopsychosocial model of the International Classification of Functioning, Disability, and Health (ICF). METHODS: An exploratory, analytical, cross-sectional study was conducted with DS adults. The social participation was assessed using the Life Habits Assessment (LIFE-H 3.1). The independent variables were determined using the ICF biopsychosocial model: Body functions were assessed by body mass index (BMI), cognition function (Mini-Mental State Examination-MMSE), and lower limbs muscle strength (Sit to Stand Test)...

Individuals with neurologic conditions seek physical therapy services to improve mobility in their daily lives. While clinicians commonly track activity capacity, measurement of activity performance in daily life is an emerging yet unstandardized practice within routine clinical physical therapy. The purpose of this case report is to (1) provide an example of the structure, clinical reasoning, and implementation of both activity capacity and activity performance level assessments across an episode of outpatient physical therapy and (2) to describe how objective activity performance in daily life tracking supported the physical therapy intervention and education plan...

BACKGROUND: ICF syndrome is a rare autosomal recessive condition characterized by immunodeficiency, centromeric instability, and facial abnormalities. It is a clinical condition that depends on the mutation of a few particular genes and is caused by methylation disruption in chromosomes 1, 9, and 16 to varying degrees. CASE PRESENTATION: The 9-months old, female patient was admitted to our clinic for treatment-resistant thrombocytopenia, chronic diarrhea and sepsis...

The irritation scale is a widely used and reliable self-report scale for measuring cognitive and emotional strain related to the work environment. It extends existing measures by providing a sensitive assessment for pre-clinical stress at work. Existing normative data are based on convenience samples and are therefore not representative. This study provides new normative data for the irritation scale based on a representative German sample (N = 1480). The new normative data indicate that the overall level of irritation in the German workforce is significantly lower compared to previously published data...

HELLS/LSH (Helicase, Lymphoid Specific) is a SNF2-like chromatin remodelling protein involved in DNA methylation. Its loss-of-function in humans causes humoral immunodeficiency, called ICF4 syndrome (Immunodeficiency, Centromeric Instability, Facial anomalies). Here we show by our newly generated B-cell-specific Hells conditional knockout mouse model that HELLS plays a pivotal role in T-dependent B-cell responses. HELLS deficiency induces accelerated decay of germinal center (GC) B cells and impairs the generation of high affinity memory B cells and circulating antibodies...

INTRODUCTION: Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a multisystem chronic disease estimated to affect 836,000-2.5 million individuals in the United States. Persons with ME/CFS have a substantial reduction in their ability to engage in pre-illness levels of activity. Multiple symptoms include profound fatigue, post-exertional malaise, unrefreshing sleep, cognitive impairment, orthostatic intolerance, pain, and other symptoms persisting for more than 6 months. Diagnosis is challenging due to fluctuating and complex symptoms...

Rhabdomyolysis syndrome refers to the breakdown and necrosis of muscle tissue due to various reasons and caused by the release of intracellular contents into the blood stream, which can lead to acute renal failure or even death. In this article, we describe for the first time a case report of severe rhabdomyolysis induced by etoposide-nedaplatin chemotherapy in a small cell lung cancer (SCLC IIIb) patient. The patient developed progressive general muscle pain and weakness after the first cycle of chemotherapy, accompanied by elevated creatine kinase (CK), myoglobin (Mb), alanine aminotransferase (ALT), spartate aminotransferase (AST), and lactate dehydrogenase (LDH)...

Hepatitis C virus (HCV) particles secreted from cells are stable at 37°C, whether the producer cell media contain serum or not. Yet, we found that intracellular HCV particles harvested after freeze-thawing of producer cells are highly unstable upon resuspension in a serum-free medium, indicating that either HCV particles gain intrinsic stability during their secretion and egress from producer cells or, alternatively, that a factor secreted from cells can stabilize intrinsically unstable HCV particles. We aimed at investigating either possibility and unraveling the mechanisms evolved by HCV to promote the stability of its viral particles...

OBJECTIVE: To elucidate long-term potentiation (LTP)-like effects on the primary motor cortical (M1) in progressive supranuclear palsy (PSP) and its relationships with clinical features. METHODS: Participants were 18 probable/possible PSP Richardson syndrome (PSP-RS) patients and 17 healthy controls (HC). We used quadripulse stimulation (QPS) over the M1 with an interstimulus interval of 5 ms (QPS-5) to induce LTP-like effect and analyzed the correlations between the degree of LTP-like effect and clinical features...

Multidimensional assessments are important in evaluating the overall health of older adults. The comprehensive geriatric assessment (CGA) is a representative framework; however, the burden associated with the CGA has led to the development of simplified multidimensional tools. Comparing these tools to the CGA can help utilize them effectively. However, a direct comparison is challenging owing to the conceptual nature of the CGA. In this study, we conducted a web-based survey to identify essential CGA components by linking International Classification of Functioning, Disability, and Health (ICF) category level 2 items and "not defined/not covered" (nd/nc) items...

Combined allergic rhinitis and asthma syndrome (CARAS) is an allergic airway inflammatory disorder orchestrated by the type 2 immune response. The close gut-lung relationship has been described, however, the effect of gut-modulating agents such as probiotics in allergic airway disorder is unclear. Thus, the goal of this study was to evaluate theLimosilactobacillus fermentumsupplementation in animals with CARAS. Therefore, BALB/c mice were ovalbumin (OVA) -sensitized and -challenged after being supplemented withL...

Zinc Finger DNA-binding domain-containing proteins are the most populous family among eukaryotic transcription factors. Among these, members of the BTB domain-containing ZBTB sub-family are mostly known for their transcriptional repressive functions. In this Viewpoint article we explore molecular mechanisms that potentially diversify the function of ZBTB proteins based on their homo and heterodimerization, alternative splicing and post translational modifications. We describe how the BTB domain is as much a scaffold for the assembly of co-repressors, as a domain that regulates protein stability...