Expanding TBCE-related phenotype-novel variant causing rigid spine, eosinophilia, neutropenia, and nocturnal hypoxemia.

We report three patients with the novel variant c.100 + 1G > A of the TBCE gene and describe the presented clinical phenotype in detail. We also systematically reviewed the literature for clinical similarities and dissimilarities among all known patients with pathogenic TBCE variants.

From chromosomal aberrations to mutations in individual genes - the significance of genetic studies of chorions after miscarriage in the search for causes of miscarriages.

Objective: To determine the frequency of chromosomal aberrations in chorions after a miscarriage. The second was to examine selected euploid chorions using a next-generation sequencing (NGS) panel designed to assess 43 genes associated with pregnancy loss.

Materials And Methods: The 1244 chorions were tested by targeted quantitative fluorescent PCR (QF-PCR, 827 chorions) and microarray-based comparative genomic hybridization (aCGH, 417 chorions).

Cholangiocarcinoma, sequential chemotherapy, and prognostic tests.

Introduction: Routine blood tests are prognostic tests for patients with cholangiocarcinoma. New drug regimens may produce a median overall survival of 2 years or more.

Methods: This single practice, IRB-approved, phase II trial examines prognostic tests, Kaplan-Meier survival, and univariate Cox regression analyses.

Fracture related infection and sepsis in orthopedic trauma: A review.

Trauma is a leading cause of death in the United States for people under 45. Amongst trauma-related injuries, orthopedic injuries represent a significant component of trauma-related morbidity. In addition to the potential morbidity and mortality secondary to the specific traumatic injury or injuries sustained, sepsis is a significant cause of morbidity and mortality in trauma patients as well, and infection related to orthopedic trauma can be especially devastating.

Immediate plate fixation of open tibial plafond fractures does not elevate risk of infection.

Objective: To determine if immediate plate fixation of open tibial plafond fractures has a negative effect on soft tissue complications and increases the risk of deep infection.

Design: This was a single-institution retrospective cohort study performed at level-1 trauma center. All patients with open OTA/AO 43C plafond fractures treated over 20-year period with follow-up until fracture union or development of deep infection.

Recanalization of portal vein thrombosis after pediatric liver transplantation: Efficacy and safety of the transsplenic access.

Background: Endovascular management of portal vein thrombosis (PVT) is challenging. Transsplenic access (TSA) is growing as an access option to the portal system but with higher rates of bleeding complications. The aim of this article is to evaluate the efficacy and safety of transsplenic portal vein recanalization (PVR) using a metallic stent after pediatric liver transplantation.

Life-threatening variceal bleeding after liver transplantation and extensive portal vein thrombosis: Desperate times call for desperate measures.

Background: The management of complex, intra- and extrahepatic portal vein thrombosis (PVT) after liver transplantation (LT) is challenging. Although most of the patients remain asymptomatic or oligosymptomatic in the chronic setting, some of them may develop severe portal hypertension and related complications, notably gastrointestinal (GI) bleeding. In the emergency scenario, clinical and endoscopic treatments as well as intensive support constitute the bases of conservative management, while more definitive treatment options such as surgical shunting and retransplantation are related to high morbidity rates.

Fixation of displaced intra-articular calcaneus fractures is safe using either sinus tarsi or extensile lateral approach.

Introduction: Management of displaced intra-articular calcaneus fractures continues to challenge surgeons. Use of the extensile lateral surgical approach (ELA) had been standard practice however wound necrosis and infection have become deterrents. The sinus tarsi approach (STA) has gained popularity as a less invasive technique to optimize articular reduction while minimizing soft tissue injury.

Comparable Outcomes Between Native and Periprosthetic Fractures of the Distal Femur.

Despite the rising prevalence of arthroplasty and aging population, limited data exist regarding differences in periprosthetic fracture clinical outcomes compared with native counterparts. This study compares differences in hospital treatment, morbidity, and mortality associated with periprosthetic distal femur fractures at an urban level 1 trauma center. We retrospectively reviewed all adult AO/OTA type 33 fractures (526) that presented to our institution between 2009 and 2018.

Impact of COVID-19 Infection on Children and Adolescents after Liver Transplantation in a Latin American Reference Center.

Background: The COVID-19 infection has received the attention of the scientific community due to its respiratory manifestations and association with evolution to severe acute respiratory syndrome (SARS-CoV-2). There are few studies characterizing SARS-CoV-2 in pediatric immunocompromised patients, such as liver transplanted patients. The aim of this study was to analyze the outcomes of the largest cohort of pediatric liver transplant recipients (PLTR) from a single center in Brazil who were infected with COVID-19 during the pandemic.

Analysis of Factors That May Affect the Effectiveness of Ketogenic Diet Treatment in Pediatric and Adolescent Patients.

Purpose: The aim was to find predictors for ketogenic diet (KD) treatment effectiveness. In addition, recognized factors influencing the efficacy of KD were analyzed based on the ILAE (International League Against Epilepsy) proposed Classification and Definition of the Epilepsy Syndromes.

Methods: A sample of 42 patients treated with KD were analyzed.

Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine.

mutations lead to complex neurodevelopmental syndromes, including infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) and congenital contractures of limbs and face, hypotonia, and developmental delay (CLIFAHDD), which are recessively and dominantly inherited, respectively. We present a patient in whom congenital myasthenic syndrome (CMS) was suspected due to the occurrence of hypotonia and apnea episodes requiring resuscitation. For this reason, treatment with pyridostigmine was introduced.

Weight-bearing status may influence rates of radiographic healing following reamed, intramedullary fixation of diaphyseal femur fractures.

Objective: To investigate the effect of weight-bearing status on radiographic healing of diaphyseal femur fractures.

Design: Retrospective 1:1 matched cohort study.

Setting: Single-level 1 trauma center.

First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century.

Cerebrotendinous xanthomatosis (CTX) is an inborn error of metabolism caused by recessive variants in the cytochrome P450 CYP27A1 gene. CTX is said to manifest with childhood-onset chronic diarrhea and the classic triad of juvenile-onset cataracts, Achilles tendons xanthomas, and progressive ataxia. It is currently one of the few inherited neurometabolic disorders amenable to a specific treatment.

Autoimmune mediated hyperkinetic movement disorders in SARS-CoV-2 infection - a systematic review.

Introduction: Various neurological symptoms have been confirmed in the course of SARS-CoV-2 infection. Some of these are undoubtedly the aftermath of the developing inflammation and increased coagulation processes. However, there is also a group of symptoms that derive from possible autoimmune processes.

CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report.

CLN8 is a ubiquitously expressed membrane-spanning protein that localizes primarily in the ER, with partial localization in the ER-Golgi intermediate compartment. Mutations in cause late-infantile neuronal ceroid lipofuscinosis (LINCL). We describe a female pediatric patient with LINCL.

Compartment syndrome following use of tissue plasminogen activator for frostbite in the setting of concomitant diaphyseal tibia fracture.

Background: Tissue plasminogen activator (tPA) is a thrombolytic agent increasingly being employed for the treatment of acute frostbite. Although tPA has been shown with success to increase digit salvage rates, data on potential complications, including risk of hemorrhage, is limited. As a result, acute trauma is considered a contraindication to use in many institution-based protocols.

Mental health of orthopaedic trauma patients during the 2020 COVID-19 pandemic.

Purpose: The outbreak of the SARS-CoV-2 virus has been associated with reports of increased anxiety, depression and fear among the general population. People with underlying psychiatric disorders are more susceptible to stress than the general population. The purpose of this study was to determine the prevalence of concomitant psychiatric conditions in the orthopaedic trauma population during the COVID-19 pandemic.

Biomechanical Comparison of Fixed- versus Variable-Angle Locking Screws for Distal Humerus Comminuted Fractures.

Background: To compare the stability of fixed- versus variable-angle locking constructs for the comminuted distal humerus fracture (AO/OTA 13-A3).

Methods: Eight pairs of complete humeri harvested from eight fresh frozen cadavers were used for the study. We fixed the intact humeri using 2.

Significance of Lateral Process Fractures Associated With Talar Neck and Body Fractures.

Objectives: To determine whether fracture of the lateral process (LP) elevates the risk of development of radiographic subtalar arthrosis in patients with talar body and neck fractures.

Design: Retrospective review.

Setting: Level 1 academic trauma center.

Long-term outcomes of transmesenteric portal vein recanalization for the treatment of chronic portal vein thrombosis after pediatric liver transplantation.

Portal vein thrombosis (PVT) may occur at any time following liver transplantation. We describe our experience with portal vein recanalization in cases of thrombosis after liver transplantation. Twenty-eight children (5%) out of 566 liver transplant recipients underwent portal vein recanalization using a transmesenteric approach.

Bevacizumab Added to Moderate-dose Chemotherapy for Refractory Uterine Cancer.

Background/aim: Bevacizumab (bev), when added to a moderate dose combination of previously failed cytotoxins, as a third- and fourth-line therapy for refractory gastric, cholangiocarcinoma, and ovarian cancers, produced high-quality responses. The regimen was based on preclinical models designed in order to simultaneously partner both bev and each of the cytotoxins with 4-5 synergistic drugs.

Patients And Methods: Eligible patients (n=9) had high-grade endometrial tumors and had failed standard chemotherapy.

Pre-diagnostic genotyping identifies T1D subjects with impaired Treg IL-2 signaling and an elevated proportion of FOXP3IL-17 cells.

T-regulatory cells (Tregs) are essential for immune tolerance, and animal studies implicate their dysfunction in type 1 diabetes (T1D) pathogenesis. Tregs require interleukin-2 (IL-2) for their suppressive function, and variants in IL-2/IL-2R pathway genes have been associated with T1D. We previously reported that recent-onset T1D subjects have an increased population of FOXP3 Tregs that secrete the pro-inflammatory cytokine, interleukin-17 (IL-17).