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).

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.

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.

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.

Innervation of the Elbow Joint: A Cadaveric Study.

Purpose: To describe elbow innervation patterns in 15 cadaveric extremities.

Methods: Fifteen fresh-frozen cadaveric upper extremities were dissected under loupe magnification. The median, radial, musculocutaneous, and ulnar nerves were dissected at the elbow joint and explored both proximally and distally to find capsular branches and identifiable anatomical patterns.

Negative pressure wound therapy in grade IIIB tibial fractures: fewer infections and fewer flap procedures?

Background: Grade IIIB open tibia fractures are devastating injuries. Some clinicians advocate wound closure or stable muscle flap coverage within 72 hours to limit complications such as infection. Negative pressure wound therapy was approved by the FDA in 1997 and has become an adjunct for many surgeons in treating these fractures.

Interprosthetic femoral fractures treated with locking plate.

Purpose: Interprosthetic fractures are challenging to manage. Although treatment of femoral fractures around a single implant has been described, there is little literature for treatment of interprosthetic femoral fractures. This study analyses the management and outcomes of 15 patients with interprosthetic femoral fractures treated with locking plates.

Locking plate fixation of periprosthetic femur fractures with and without cerclage wires.

Objective: The number of patients requiring knee and hip arthroplasty has been steadily increasing, and periprosthetic fractures are on the rise. Locking plates are the most common treatment for periprosthetic fractures, but the use of cerclage wires with locking plate fixation has been controversial.

Methods: Forty-seven patients with periprosthetic femur fractures were reviewed retrospectively.

High complication rate in locking plate fixation of lower periprosthetic distal femur fractures in patients with total knee arthroplasties.

Fixation of the distal portion of the femur in patients with total knee arthroplasties can be challenging. Locking plates have emerged as a promising treatment. Twenty-seven patients with periprosthetic distal femur fractures after total knee arthroplasties were treated using a contralateral reverse distal femoral locking plate.