Perspectives on the state of cleft lip and cleft palate patient care in Africa.

Purpose Of Review: Patients with cleft lip -palate (CLP) experience morbidity and social stigma, particularly in low-income and middle-income countries (LMICs) such as those of sub-Saharan Africa (SSA). Delays in treatment secondary either to lack of awareness, skills, equipment and consumables; poor health infrastructure, limited resources or a combination of them, has led to SSA having the highest rates of death and second highest rates of disability-adjusted life years in patients with CLP globally. Here we review current perspectives on the state of comprehensive cleft lip and palate repair in Africa.

Eukaryotic translation initiation factor p.Ser637Cys mutation in a family with Parkinson's disease with antecedent essential tremor.

Essential tremor (ET) and Parkinson's disease (PD) are common chronic movement disorders that can cause a substantial degree of disability. However, the etiology underlying these two conditions remains poorly understood. In the present study, Whole-exome sequencing of peripheral blood samples from the proband and Sanger sequencing of the other 18 family members, and pedigree analysis of four generations of 29 individuals with both ET and PD in a nonconsanguineous Chinese family were performed.

Geospatial evaluation of radiologic access in Rwanda.

Background: Rwanda has aimed to rebuild its health care system since the Rwandan genocide against the Tutsis in 1994, though one of the challenges has been a scarcity of radiologic resources.

Objective: To assess the location and accessibility of radiologic facilities in Rwanda using geospatial mapping and population-based data.

Methods: A cross-sectional study was conducted in May 2023 using location and radiologic modality data provided by the Department of Radiology at the University Teaching Hospital of Kigali and the WorldPop database, a publicly available database providing open-access geospatial population data.

Challenges and adverse events in pediatric hypoglossal nerve stimulation.

Introduction: Hypoglossal nerve stimulation was recently FDA approved for use in children with Down Syndrome and persistent obstructive sleep apnea. Although there is a robust experience in hypoglossal nerve stimulation in adults, we observed several challenges that are unique to providing this therapy to a complex pediatric population with a high rate of sensory processing disorders. We sought to review the adverse events and challenges to inform clinicians as hypoglossal nerve stimulation becomes a more accessible option for this complex population.

Compound heterozygous mutations in tripeptidyl peptidase 1 cause rare autosomal recessive spinocerebellar ataxia type 7: A case report.

Background: Spinocerebellar ataxia recessive type 7 (SCAR7) is a rare clinical manifestation beginning in childhood or adolescence. SCAR7 is caused by tripeptidyl peptidase 1 () gene mutations, and presents with cerebellar ataxia, pyramidal signs, neurocognitive impairment, deep paresthesia, and cerebellar atrophy.

Case Summary: Here, we describe a 25-year-old female patient in China who presented with increasing difficulty walking, falling easily, shaking limbs, instability holding items, slurred speech, coughing when drinking, palpitations, and frequent hunger and overeating.

Facial Filler in Facial Paralysis: A Prospective Case Study and Multidimensional Assessment.

Facial filler is emerging as a nonsurgical alternative for addressing static asymmetry in facial paralysis (FP). To elucidate the patient experience for facial filler and to facilitate preprocedure counseling and education. Patients receiving hyaluronic acid filler for FP at a tertiary academic medical center were prospectively recruited.

Opioid-Sparing Pain Control after Rhinoplasty: Updated Review of the Literature.

Rhinoplasty is one of the most performed elective surgeries, and given the opioid crisis, increasing research and studies are focused on successful pain control with multimodality opioid-sparing techniques, such as acetaminophen, nonsteroidal anti-inflammatory drugs (NSAIDs), and gabapentin. Although limiting overuse of opioids is critical, this cannot be at the expense of inadequate pain control, particularly as insufficient pain control can be correlated with patient dissatisfaction and the postoperative experience in elective surgery. There is likely significant opioid overprescription, as patients often report taking less than 50% of their prescribed opioids.

A novel missense mutation in causes hereditary spastic paraplegia in male members of a family: A case report.

Hereditary spastic paraplegia (HSP) comprises a group of hereditary and neurodegenerative diseases that are characterized by axonal degeneration or demyelination of bilateral corticospinal tracts in the spinal cord; affected patients exhibit progressive spasticity and weakness in the lower limbs. The most common manifestation of HSP is spastic paraplegia type 4 (SPG4), which is caused by mutations in the spastin () gene. The present study reports the clinical characteristics of affected individuals and sequencing analysis of a mutation that caused SPG4 in a family.

Child with adenylosuccinate lyase deficiency caused by a novel complex heterozygous mutation in the gene: A case report.

Background: Adenylosuccinate lyase (ADSL) deficiency is a rare autosomal-recessive defect of purine metabolism caused by mutation of the gene. It can cause severe neurological impairment and diverse clinical manifestations, including epilepsy.

Case Summary: Here, we describe a 3-year-old Chinese boy who had both psychomotor retardation and refractory epilepsy.

Lactiplantibacillus plantarum Regulated Intestinal Microbial Community and Cytokines to Inhibit Salmonella typhimurium Infection.

Lactic acid bacteria (LAB) are recognized as food-grade safe microorganisms and have many beneficial effects. LAB could maintain the host intestinal homeostasis and regulate intestinal microbial community to exert antibacterial effects. In this study, Lactiplantibacillus plantarum (L.

Health Utility Measures Among Patients with Androgenetic Alopecia After Hair Transplant.

Background: Hair loss causes significant psychosocial distress to patients. Health utility measurements offer an objective, quantitative assessment of health-related quality of life (QOL).

Methods: We performed a prospective cohort study on patients with hair loss between January 1, 2018 and December 31, 2020.

Free Functional Gracilis Flaps for Facial Reanimation in Elderly Patients.

The free functional gracilis flap (FFGF) is a versatile procedure in reanimating the paralyzed face, yet its application in seniors is limited by perceptions of morbidity and inefficacy. The study objective was to compare the morbidity and effectiveness of FFGF reanimation among senior and younger patients. A retrospective chart review was performed on 20 consecutive patients aged 60 years and above (seniors) and 35 patients aged 40 years and below (juniors) who underwent FFGF for facial reanimation.

Association of Hypocalcemia and Magnesium Disorders With Thyroidectomy in Commercially Insured Patients.

Importance: Hypocalcemia is a common complication of total thyroidectomy.

Objectives: To identify factors associated with hypocalcemia after total thyroidectomy and to explore the association between hypocalcemia, magnesium disorders, and costs of care.

Design, Setting, And Participants: A retrospective cross-sectional analysis was performed using data from the MarketScan Commercial Claim and Encounters database on 126 766 commercially insured patients younger than 65 years undergoing total thyroidectomy between January 1, 2010, and December 31, 2012.

Contemporary Outcomes following Redo Autogenous Infrainguinal Bypass.

Background: Revascularization after lower extremity bypass failure poses many challenges. Despite nearly 7 decades of experience with lower extremity revascularization, there is little data on the success of redo bypass particularly when autogenous conduit is utilized. The purpose of this study is to review outcomes of redo infrainguinal bypass constructed solely of autogenous vein.

Complete versus partial excision of infected arteriovenous grafts: Does remnant graft material impact outcomes?

Objective: Infected arteriovenous grafts necessitate intervention to obtain source control. However, excising the graft material can be challenging and can lead to complications. Leaving a cuff of graft at the sites of anastomosis allows for the avoidance of potential risks.

Valve-sparing aortic root replacement in children: Outcomes from 100 consecutive cases.

Objective: Valve-sparing root replacement is an attractive alternative to composite mechanical or biologic prostheses for aortic root aneurysms in children. Data on outcomes in pediatric patients are limited. We present our institutional experience with 100 consecutive pediatric valve-sparing aortic root procedures.

Removal of Noninfected Arteriovenous Fistulae after Kidney Transplantation is a Safe and Beneficial Management Strategy for Unused Dialysis Access.

Background: Renal transplant recipients often maintain their hemodialysis access in the event of future allograft failure. Patients may develop complications related to the unused dialysis access, and it also limits vein availability for phlebotomy. Accordingly, a change in the current paradigm may be warranted.

Coronary Button Pseudoaneurysms After Aortic Root Replacement in a Child With Loeys-Deitz Syndrome.

Loeys-Deitz syndrome (LDS) is a connective tissue disorder characterized by aggressive aortopathy with a proclivity for aortic aneurysmal rupture and dissection. Prophylactic surgical intervention is often indicated to ameliorate risk of aneurysm rupture. Aortic root replacement involves excision of the coronary arteries from the aortic root with a button of surrounding aortic tissue and subsequent anastomosis of these buttons to the synthetic aortic graft.

Review of Vascular Graft Studies in Large Animal Models.

As the incidence of cardiovascular disease continues to climb worldwide, there is a corresponding increase in demand for surgical interventions involving vascular grafts. The current gold standard for vascular grafts is autologous vessels, an option often excluded due to disease circumstances. As a result, many patients must resort to prosthetic options.

Bilateral Arteriovenous Shunts as a Method for Evaluating Tissue-Engineered Vascular Grafts in Large Animal Models.

There remains a need for large animal models to evaluate tissue-engineered vascular grafts (TEVGs) under arterial pressure to provide preclinical data for future potential human clinical trials. We present a comprehensive method for the interrogation of TEVGs, using an ovine bilateral arteriovenous (AV) shunt implantation model. Our results demonstrate that this method can be performed safely without complications, specifically acute heart failure, steal syndrome, and hypoxic brain injury, and it is a viable experimental paradigm.

Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.

Epileptic encephalopathies are a catastrophic group of epilepsies characterized by refractory seizures and cognitive arrest, often resulting from abnormal brain development. Here, we have identified an epileptic encephalopathy additionally featuring cerebral calcifications and coarse facial features caused by recessive loss-of-function mutations in DENND5A. DENND5A contains a DENN domain, an evolutionarily ancient enzymatic module conferring guanine nucleotide exchange factor (GEF) activity to multiple proteins serving as GEFs for Rabs, which are key regulators of membrane trafficking.

Ndel1 and Reelin Maintain Postnatal CA1 Hippocampus Integrity.

Unlabelled: How the integrity of laminar structures in the postnatal brain is maintained impacts neuronal functions. Ndel1, the mammalian homolog of NuDE from the filamentous fungus Aspergillus nidulans, is an atypical microtubule (MT)-associated protein that was initially investigated in the contexts of neurogenesis and neuronal migration. Constitutive knock-out mice for Ndel1 are embryonic lethal, thereby necessitating the creation a conditional knock-out to probe the roles of Ndel1 in postnatal brains.