Family Genetic Risk Communication and Reverse Cascade Testing in the BabySeq Project.

Purpose: Genomic sequencing of newborns (NBSeq) can initiate disease surveillance and therapy for children, and may identify at-risk relatives through reverse cascade testing. We explored genetic risk communication and reverse cascade testing among families of newborns who underwent exome sequencing and had a risk for autosomal dominant disease identified.

Methods: We conducted semi-structured interviews with parents of newborns enrolled in the BabySeq Project who had a pathogenic or likely-pathogenic (P/LP) variant associated with an autosomal dominant (AD) childhood- and/or adult-onset disease returned.

Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations.

Objectives: Biallelic HPDL variants have been identified as the cause of a progressive childhood-onset movement disorder, with a broad clinical spectrum from severe neurodevelopmental disorder to juvenile-onset pure hereditary spastic paraplegia type 83. This study aims at delineating the geno- and phenotypic spectra of patients with HPDL-related disease, quantitatively modelling the natural history, and uncovering genotype-phenotype associations.

Methods: A cross-sectional analysis of 90 published and one novel case was performed, employing a Human Phenotype Ontology-based approach.

Accuracy of Preliminary Maxillary Canine and Anchorage Tooth Movement in Premolar Extraction Cases Using 12 In-House Clear Aligners: A Randomised Control Trial Comparing Power Arm and Control.

Objectives: To investigate maxillary canine movement accuracy and anchorage during space closure in first premolar extraction cases (maximum anchorage) using In-House Clear Aligners (IHCAs).

Materials And Methods: A randomised controlled trial with a split-mouth design recruited 16 adults in university setting. Each patient was randomly assigned by side for canine retraction using 12 IHCAs to both the experimental palatal power arm (Pa) and non-Pa control (C).

Factors Influencing the Demoralisation Syndrome of Post-Operative Patients With Breast Cancer: A Cross-Sectional Study.

Aim: We explored demoralisation syndrome among post-operative patients with breast cancer and its relationship with patients' body image and marital intimacy.

Design: A cross-sectional study.

Methods: In this cross-sectional study, 237 patients with breast cancer who were hospitalised in the breast surgery department of Grade A tertiary hospital in Xiamen, China from June 2022 to December 2023 and met the standards of adaxation were selected by the convenience sampling method.

Association between gestational age and severe maternal morbidity in preterm delivery: A nationwide population-based cohort study.

Objective: This study investigates whether early gestational age (GA) at delivery is associated with an increased risk for severe maternal morbidity (SMM) in women with preterm delivery.

Methods: This retrospective national cohort study based on the Programme de Médicalisation des Systèmes d'Information database included mothers who gave birth between 22 and 37 weeks in metropolitan France in 2019 (in utero deaths and medical terminations of pregnancies were excluded). SMM was defined as a composite criterion consisting of the occurrence of at least one of the following events: death, severe preeclampsia, obstetric surgical complications, severe maternal diseases, and admission to the intensive care unit.

Real-world experience of diagnosis, disability, and daily management in parents of children with different genetic developmental and epileptic encephalopathies: a qualitative study.

Purpose: This study describes the experience of parents of children with developmental and epileptic encephalopathies (DEE) and how the disease impacts their daily lives.

Materials And Methods: A descriptive qualitative study was conducted using purposeful sampling. Twenty-one parents of children with DEEs caused by SCN1A, KCNQ2, CDKL5, PCDH19, and GNAO1 variants were included.

Pruritic Vulvovaginitis in a Young Girl: A Case of Vulvovaginal Enterobiasis.

Vulvovaginal enterobiasis is underreported and an often-missed diagnosis in prepubertal girls presenting with isolated nocturnal vulvar pruritus. An 8-year-old-girl with intense nocturnal vulvar itching for 4 months was diagnosed with enterobiasis after microscopy of a vaginal swab revealed Enterobius vermicularis (pinworm) ova. The child and her family were treated with two doses of oral albendazole, 2 weeks apart, resulting in symptom resolution.

Analyzing the mother and father's parenthood behaviors in the early postpartum period.

Objective: This study aimed to examine the parenting behaviors of mothers and fathers during the postpartum period.

Methods: This descriptive cross-sectional study was conducted on 200 married individuals who had healthy babies between February 2019-September 2020 at a hospital. This study used introductory information forms for parents, "Postpartum Parenting Behavior Scale (PPBS)" and "Marital Adjustment Scale (MAS)".

Efficacy and safety of low-dose TBI combined MAC regimen for HSCT in high-risk AML patients with active disease.

Background: The management of high-risk acute myeloid leukaemia (AML) remains challenging, highlighting the need for innovative conditioning strategies beyond current regimens.

Methods: In the present single-arm study, a FACT regimen comprised of low-dose total body irradiation (TBI) with fludarabine, cytarabine and cyclophosphamide was employed to treat cytogenetically high-risk AML patients exhibiting pre-transplant active disease. This clinical trial is registered in the Chinese Clinical Trial Registry with the registration number ChiCTR2000035111.

An Atlas of Anatomical Variants of the Human Talus.

Anatomical variants can be used effectively to identify relationships between individuals in kinship analysis and they may be useful during surgical procedures. These procedures can be better implemented when the cause, appearance and location are understood. Clear representations and definitions of anatomical traits are necessary.

Individuals with Heterogenous Trabecular Bone Texture by Clinical MRI have Lower Bone Strength and Stiffness by QCT Based Finite Element Analysis.

Opportunistic screening is essential to improve the identification of individuals with osteoporosis. Our group has utilized image texture features to assess bone quality using clinical MRIs. We have previously demonstrated that greater heterogeneity of MRI texture related to history of fragility fractures, lower bone density, and worse microarchitecture.

Primary hepatic epithelioid hemangioendothelioma: a case report.

Epithelioid hemangioendothelioma is a low-grade malignant tumor of vascular origin. The rarity of hepatic epithelioid hemangioendothelioma (HEHE) makes the diagnosis and treatment of this entity challenging. We report a case of a 69-year-old female patient who suffered from HEHE and complained of abdominal distension pain with dizziness and appetite loss for more than half a month.

Risk of comorbidity of autoimmune liver disease in patients with inflammatory bowel disease: A single-center case-control study in China.

Objective: To investigate the prevalence of autoimmune hepatitis (AIH), primary biliary cholangitis (PBC), and primary sclerosing cholangitis (PSC), and the impact of comorbidity of AIH, PBC, and PSC on hospitalization burden in patients with inflammatory bowel disease (IBD).

Methods: Inpatients admitted to Peking Union Medical College Hospital from January 1, 1998 to December 31, 2021 were included. Odds ratio (OR) and the corresponding 95% confidence interval (CI) were calculated to compare the risk of AIH, PBC, and PSC between IBD and non-IBD patients.

Integrating UPLC-MS/MS Bioinformatics and In Vivo Experiments Validation to Elucidate the Mechanism of Wenzi Jiedu Decoction in Suppressing Colorectal Cancer.

Objectives: We used ultra-performance liquid chromatography tandem mass spectrometry (UPLC-MS/MS), bioinformatics, and in vivo experiments to study the anti-colorectal cancer (CRC) effects of Wenzi Jiedu Decoction (WJD).

Methods: Detected the main components of WJD by UPLC-MS/MS. Obtained WJD targets and CRC targets through the open source database.

Nature's arsenal unleashed: derived thymol halts cancer progression by suppressing proangiogenic genes.

Inhibiting angiogenesis with plant-derived bioactive compounds can inhibit tumour progression. Antiangiogenic potential of was analysed by preparing and analysing ethanolic extracts of by GC-MS and HPLC to identify bioactive components. In-vivo blood vessel formation assays in mice and chorioallantoic membrane assays (CAM) in eggs were employed to assess the antiangiogenic effects.

Outliers of Treatment Frequency in Retinal Vein Occlusion: 24-Month Comparative Analysis of Fight Retinal Blindness! Practitioners.

Background: We aimed to describe a 2-year outcome of eyes managed by practitioners benchmarked using a funnel plot by their frequency of treatment using vascular endothelial growth factor (VEGF) inhibitors for naive retinal vein occlusion (RVO).

Methods: A multicentre, international, observational study of 29 doctors in 12 countries managing 1110 eyes with RVO commencing VEGF inhibitors between 1 January 2012-2022 tracked in the Fight Retinal Blindness! registry.

Results: We identified 3 outlying 'intensive' practitioners (managing 350/1110 eyes [32%]), 22 'typical' practitioners (604/1110, [54%]) and 4 outlying 'relaxed' practitioners (156/1110, [14%]) with respective 24-month outcomes in Branch and Central RVO including the primary outcome, mean adjusted change in visual acuity (VA) in BRVO: +16.

Impact of Race on the Outcomes of Retinoblastoma Treated With Primary Enucleation: A Global Study of 1426 Patients.

Background: To evaluate the clinical presentation, pathological features and outcomes of retinoblastoma based on the race of origin in a global cohort of patients.

Methods: Retrospective collaborative study of 1426 patients who underwent primary enucleation for retinoblastoma.

Results: Patients were grouped into Caucasians (n = 231, 16%), Asians (n = 841, 59%), Hispanics (n = 226, 16%), Arabs (n = 96, 7%) and Others (Africans, African Americans, Indigenous Australians; n = 32, 2%) cohorts.

[Paraneoplastic opsoclonus-myoclonus syndrome].

Opsoclonus-myoclonus syndrome (OMS) is a rare neurological disorder characterized by a combination of main symptoms: opsoclonus, myoclonus, ataxia, psychoemotional and behavioral disturbances. OMS can develop in children as a result of immunopathological processes against the background of infectious or oncological pathology and lead to persistent neurological deficit. A case of ten-year observation of paraneoplastic OMS associated with neuroblastoma in a child is presented.

[Modern aspects of chronic cerebral ischemia pathogenetic therapy].

Chronic cerebral ischemia (CCI) is one of the most common forms of cerebrovascular disease, which affects a significant number of patients, often leading to disability, cognitive impairment and dementia. The analysis of modern data on the pathogenesis and risk factors for the development of CCI, as well as on the mechanisms of action of Mexidol on various links in the pathogenesis of CCI. A systematic search was conducted in the PubMed, MEDLINE and Google Scholar databases, on Russian and English-language sites with open access publications on the problem of CCI and on the drug Mexidol in the period from 2014 to 2024.

[Open observational study with a retrospective analysis of the efficacy and tolerability of aceclofenac in patients with acute non-specific low back pain].

Objective: To analyze the efficacy and tolerability of aceclofenac in the treatment of patients with acute non-specific musculoskeletal pain in the lower back (ANBP) compared with other NSAIDs (dexketoprofen, nimesulide and lornoxicam), as well as to assess the impact of NSAIDs therapy on the relative risk of recurrence and chronicity of this pathology.

Material And Methods: The study involved 80 patients (47 women and 33 men), average age 52.6 [47.

[Comprehensive rehabilitation of spinal trauma patients with extended involvement of nursing staff and neurometabolic therapy].

Objective: Analysis of the effectiveness of the use of the drug Cytoflavin and the organization of the activities of nursing staff, within the framework of nursing care, in the complex therapy of patients with spinal cord injury (PSMT).

Material And Methods: Material and methods. 40 patients with PSMT due to a gunshot wound were examined, who were divided into two equal groups depending on the type of therapy performed: group 1 patients received the full volume of stage I medical rehabilitation (with additional use of neurodevelopmental techniques under the supervision of a Bobata department nurse) and standard drug therapy, including a course of intravenous Cytoflavin infusions followed by tablet form; group 2 patients received the full volume of stage I medical rehabilitation and standard drug therapy, but did not receive Cytoflavin.

The predictive value of thyroid hormone sensitivity parameters for cervical lymph node metastasis in patients with differentiated thyroid cancer.

Objective: To comprehensively investigate the predictive value of thyroid hormone sensitivity parameters for cervical lymph node metastasis in patients diagnosed with differentiated thyroid cancer (DTC) undergoing total thyroidectomy and neck lymph node dissection.

Methods: A retrospective cohort study was conducted involving patients diagnosed with DTC and evaluated for cervical lymph node metastasis. Relevant demographic, tumour, lymph node and thyroid hormone sensitivity parameter data were extracted from medical records and laboratory reports.