Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome.

The Verloes or Hale diagnostic criteria have been applied for diagnosing CHARGE syndrome in suspected patients. This study was conducted to evaluate the diagnostic rate of CHD7 according to these diagnostic criteria in suspected patients and also to investigate other genetic defects in CHD7-negative patients. The clinical findings and the results of genetic testing of CHD7, chromosome microarray, exome sequencing, or genome sequencing of 59 subjects were reviewed.

Metabolic engineering of Priestia megaterium for 2'-fucosyllactose production.

Background: 2'-Fucosyllactose (2'-FL) is a predominant human milk oligosaccharide that significantly enhances infant nutrition and immune health. This study addresses the need for a safe and economical production of 2'-FL by employing Generally Recognized As Safe (GRAS) microbial strain, Priestia megaterium ATCC 14581. This strain was chosen for its robust growth and established safety profile and attributing suitable for industrial-scale production.

High-fat and high-carbohydrate diets increase bone fragility through TGF-β-dependent control of osteocyte function.

Obesity can increase the risk of bone fragility, even when bone mass is intact. This fragility stems from poor bone quality, potentially caused by deficiencies in bone matrix material properties. However, cellular and molecular mechanisms leading to obesity-related bone fragility are not fully understood.

Safety and efficacy of selumetinib in pediatric and adult patients with neurofibromatosis type 1 and plexiform neurofibroma.

Background: The MEK inhibitor, selumetinib, reduces plexiform neurofibroma (PN) in pediatric patients with neurofibromatosis type 1 (NF1). Its safety and efficacy in adults with PN and effectiveness in other NF1 manifestations (eg, neurocognitive function, growth reduction, and café-au-lait spots) are unknown.

Methods: This open-label, phase II trial enrolled 90 pediatric or adult NF1 patients with inoperable, symptomatic, or potentially morbid, measurable PN (≥3 cm).

A preliminary examination of the effects of childhood abuse and resilience on pain and physical functioning in patients with knee osteoarthritis.

Objectives: We examined associations of a self-reported history of childhood abuse with pain and physical functioning in patients with knee osteoarthritis (KOA) awaiting total knee arthroplasty (TKA). We also explored the potential moderating effects of positive childhood experiences (PCEs), an index of resilience, on these associations.

Methods: Prior to TKA, participants with KOA awaiting surgery ( = 239) completed self-report measures of adverse childhood experiences (ACEs), PCEs, pain, and physical functioning.

The association between changes in clinical pain severity and IL-6 reactivity among patients undergoing total knee Arthroplasty: The moderating role of change in insomnia.

Knee osteoarthritis (KOA) is linked to an enhanced release of interleukin-6 (IL-6). Increased levels of IL-6 are associated with greater pain and insomnia. While total knee arthroplasty (TKA) typically results in the reduction of pain, for a subgroup of patients, pain does not improve.

Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature.

Background: Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive disorder caused by loss-of-function mutations of the NTRK1 gene, affecting the autonomic and sensory nervous system. Clinical manifestation is varied and includes recurrent fever, pain insensitivity, anhidrosis, self-mutilating behavior, and intellectual disability.

Methods: Clinical and genetic features were assessed in two males and one female with genetically confirmed CIPA using exome or genome sequencing.

A 10-year follow-up of high-dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher disease.

High-dose ambroxol therapy combined with ERT in patients with neuropathic Gaucher disease.

Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene.

Purpose: Deficiency of 21-hydroxylase (21-OHD) is an autosomal recessively inherited disorder that is characterized by adrenal insufficiency and androgen excess. This study was performed to investigate the clinical utility of prenatal diagnosis of 21-OHD using molecular genetic testing in families at risk.

Methods: This study included 27 pregnant women who had previously borne a child with 21-OHD.

Long-term endocrine sequelae after hematopoietic stem cell transplantation in children and adolescents.

Purpose: As the survival rate from pediatric cancers has increased significantly with advances in treatment modalities, long-term endocrine complications have also risen. This study investigated the frequencies and risks of endocrine sequelae in childhood cancer survivors who received hematopoietic stem cell transplantation (HSCT).

Methods: This study included 200 pediatric patients who underwent HSCT.

Change in Pain During Physical Activity Following Total Knee Arthroplasty: Associations With Improved Physical Function and Decreased Situational Pain Catastrophizing.

Background And Objectives: Knee osteoarthritis is one of the primary causes of chronic pain among older adults and because of the aging population, the number of total knee arthroplasties (TKAs) performed is exponentially increasing. While pain reduction is a goal of TKA, movement-evoked pain is rarely assessed pre- and post-TKA. We characterized the distributions of change in pain, function, and situational catastrophizing in patients from presurgery to 3 months postsurgery and explored associations among these pre-post changes.

Impact of Early Diagnostic and Therapeutic Interventions and Clinical Course in Children and Adolescents with Multiple Endocrine Neoplasia Types 1 and 2.

Purpose: Multiple endocrine neoplasia types 1 (MEN1) and 2 (MEN2) are inherited endocrine tumor syndromes caused by mutations in the or genes. This study aimed to investigate clinical outcomes and molecular characteristics among children with MEN.

Methods: This study included eight patients from seven unrelated families.

The Interconnection Between Social Support and Emotional Distress Among Individuals with Chronic Pain: A Narrative Review.

Chronic pain is a public health concern affecting over 100 million U.S. adults.

Clinical Characteristics and Long-Term Outcomes of Adrenal Tumors in Children and Adolescents.

Objective: Adrenal tumors are generally rare in children and can be a part of familial cancer syndrome. This research was conducted to examine the clinical outcomes, histopathological results, and genetic etiologies of adrenal tumors in children and adolescents.

Methods: Thirty-one children and adolescents with adrenal tumors were included.

miR181a/b-1 controls osteocyte metabolism and mechanical properties independently of bone morphology.

Bone derives its ability to resist fracture from bone mass and quality concurrently; however, many questions about the molecular mechanisms controlling bone quality remain unanswered, limiting the development of diagnostics and therapeutics. Despite the increasing evidence on the importance of miR181a/b-1 in bone homeostasis and disease, whether and how osteocyte-intrinsic miR181a/b-1 controls bone quality remains elusive. Osteocyte-intrinsic deletion of miR181a/b-1 in osteocytes in vivo resulted in compromised overall bone mechanical behavior in both sexes, although the parameters affected by miR181a/b-1 varied distinctly based on sex.

Let's Get Physical! A Comprehensive Review of Pre- and Post-Surgical Interventions Targeting Physical Activity to Improve Pain and Functional Outcomes in Spine Surgery Patients.

The goal of this comprehensive review was to synthesize the recent literature on the efficacy of perioperative interventions targeting physical activity to improve pain and functional outcomes in spine surgery patients. Overall, research in this area does not yet permit definitive conclusions. Some evidence suggests that post-surgical interventions may yield more robust long-term outcomes than preoperative interventions, including large effect sizes for disability reduction, although there are no studies directly comparing these surgical approaches.

Mutation spectrum and frequency of copy number variations of the ANOS1 gene in patients with Kallmann syndrome or normosmic isolated hypogonadotropic hypogonadism.

Objective: This study was performed to investigate the molecular characteristics and frequency of copy number variations (CNVs) of ANOS1 in patients with Kallmann syndrome (KS) or normosmic isolated hypogonadotropic hypogonadism (nIHH) using multiplex ligation-dependent probe amplification (MLPA) analysis and sequencing.

Methods: Among 45 patients from 43 independent families, Sanger sequencing, next-generation sequencing (NGS), or microarray was performed in 24 patients from 23 families, and MLPA was performed in 19 patients who did not show rare sequence variants (n = 18) or ANOS1 amplification by PCR (n = 1).

Results: Seven patients (four patients with KS, one patient with nIHH, one prepubertal boy with anosmia, and one newborn patient) from six families (6/43, 14%) harbored molecular defects in ANOS1 including a nonsense mutation (c.

Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes.

Purpose: Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disorder caused by unresponsiveness to androgens because of mutations in the AR gene. Here, we investigated the clinical outcomes and molecular spectrum of AR variants in patients with AIS attending a single academic center.

Methods: This study included 19 patients with AIS who were confirmed by molecular analysis of AR.

Brief Mindfulness-Based Cognitive Behavioral Therapy is Associated with Faster Recovery in Patients Undergoing Total Knee Arthroplasty: A Pilot Clinical Trial.

Objective: To assess whether brief mindfulness-based cognitive behavioral therapy (MBCBT) could enhance the benefits of total knee arthroplasty (TKA) in improving pain and pain-related disability. Specifically, to determine 1) whether patients who received MBCBT differed from matched controls who received treatment-as-usual with regard to postsurgical pain outcomes and 2) whether changes in pain catastrophizing, depression, or anxiety explained the potential effects of MBCBT on pain outcomes.

Design: Pilot clinical trial.

Poly-3-hydroxybutyrate production in acetate minimal medium using engineered Methylorubrum extorquens AM1.

Acetate is regarded as a sustainable microbial feedstock that is synthesized from biowastes such as synthesis gas (syngas), carbon dioxide, lignocellulose, or organic waste. In this study, Methylorubrum extorquens AM1 was engineered to improve the production of bioplastic poly-3-hydroxybutyrate (PHB) using acetate as the sole carbon source. To utilize acetate as a carbon source and methanol as an energy source, acs encoding acetyl-CoA synthetase and fdh from Burkholderia stabilis were overexpressed, while ftfL involved in the assimilation of methanol into formyl-tetrahydrofolate was deleted.

Strategies for Biosynthesis of C1 Gas-derived Polyhydroxyalkanoates: A review.

Biosynthesis of polyhydroxyalkanoates (PHAs) from C1 gases is highly desirable in solving problems such as climate change and microplastic pollution. PHAs are biopolymers synthesized in microbial cells and can be used as alternatives to petroleum-based plastics because of their biodegradability. Because 50% of the cost of PHA production is due to organic carbon sources and salts, the utilization of costless C1 gases as carbon sources is expected to be a promising approach for PHA production.