Characterization of Dnajc12 knockout mice, a model of hypodopaminergia.

Homozygous DNAJC12 c.79-2A>G (p. V27Wfs*14) loss-of-function mutations were first reported as a cause of young-onset Parkinson's disease.

RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.

Background: Parkinson's disease is a progressive neurodegenerative disorder with multifactorial causes, among which genetic risk factors play a part. The RAB GTPases are regulators and substrates of LRRK2, and variants in the LRRK2 gene are important risk factors for Parkinson's disease. We aimed to explore genetic variability in RAB GTPases within cases of familial Parkinson's disease.

A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase.

Background: Parkinson's disease (PD) is a progressive neurodegenerative disorder. Mendelian forms have revealed multiple genes, with a notable emphasis on membrane trafficking; RAB GTPases play an important role in PD as a subset are both regulators and substrates of LRRK2 protein kinase. To explore the role of RAB GTPases in PD, we undertook a comprehensive examination of their genetic variability in familial PD.

The Circumferential Femoroplasty: An All-Arthroscopic Technique for Addressing a Challenging Hip Deformity.

Femoroacetabular impingement is recognized as a common cause of hip pain. Cam-type femoroacetabular impingement results from abnormal contact between an aspherical femoral head and the acetabular rim during hip range of motion, leading to labral tearing, cartilage damage, and, eventually, osteoarthritis. Arthroscopic correction of this bony deformity has been well described, particularly in the anterolateral quadrant of the femoral neck.

Maximal Outcome Improvement Willingness Thresholds Are Predictive of a Patient's Willingness to Undergo the Same Surgery, in Retrospect, Given the Known Outcome of Their Primary Hip Arthroscopy.

Purpose: To determine the percent maximal outcome improvement willingness thresholds (MOWTs) for the Nonarthritic Hip Score (NAHS) and the visual analog scale (VAS) for pain that were associated with a patient's willingness to undergo surgery, in retrospect, given the known outcome of their primary hip arthroscopy with concomitant endoscopy for gluteus medius (GM) tear repair.

Methods: An anchor question was provided to patients who underwent primary hip arthroscopy for femoroacetabular impingement syndrome with concomitant endoscopic GM tear repair between April 2008 to April 2020. Patients were included if they answered the anchor question and had baseline and postoperative minimum 1-year follow-up scores for the NAHS and VAS.

Workers' Compensation Patients Improved After Hip Arthroscopy for Labral Tears: A 5-Year Outcome Propensity Score-Matched Study.

Background: The workers' compensation (WC) status has been associated with inferior outcomes in orthopaedic procedures and is usually excluded from clinical outcome studies. Therefore, comparative studies based on WC status are scarce.

Purpose: (1) To determine outcomes of patients with WC claims treated with hip arthroscopy for labral tears at a minimum 5-year follow-up and (2) to compare these findings with a propensity score-matched control group without WC claims.

Limited lumbopelvic mobility does not influence short-term outcomes after primary hip arthroscopy: a propensity-matched controlled study.

There is a paucity of literature investigating the effect of lumbopelvic mobility on patient-reported outcome scores (PROs) after primary hip arthroscopy. The purpose of this study was (i) to report minimum 1-year PROs in patients with limited lumbopelvic mobility (LM) who underwent primary hip arthroscopy for femoroacetabular impingement syndrome (FAIS) and (ii) to compare clinical results with a propensity-matched control group of patients with normal lumbopelvic mobility (NM). Data were reviewed for surgeries performed between November 2019 and March 2020.

High Body Mass Index Does Not Adversely Affect Outcomes in High-Level Athletes Undergoing Primary Hip Arthroscopy: A Propensity-Matched Comparison With Minimum 2-Year Follow-up.

Background: The effect of high body mass index (BMI) on outcomes in athletes has not been established.

Purpose: (1) To report minimum 2-year patient-reported outcome (PRO) scores and return to sports (RTS) for high-level athletes with high BMI undergoing hip arthroscopy for femoroacetabular impingement syndrome (FAIS) and (2) to compare results with a propensity-matched control group of high-level athletes with a normal BMI.

Study Design: Cohort study; Level of evidence, 3.

One Bony Morphology, Two Pathologic Entities: Sex-Based Differences in Patients With Borderline Hip Dysplasia Undergoing Hip Arthroscopy.

Background: Sex-based differences have been largely uncharacterized for patients with borderline hip dysplasia (BHD) undergoing hip arthroscopy.

Purpose: To evaluate for sex-based differences in clinical and pathologic characteristics as well as surgical outcomes in patients with BHD undergoing hip arthroscopy.

Study Design: Cohort study; Level of evidence, 3.

Impact of Sports Medicine and Orthopedic Surgery Rotations on Musculoskeletal Knowledge in Residency.

Introduction Musculoskeletal (MSK) complaints and injuries comprise 18.7% of emergency department visits. However, only 61% of emergency physicians (EP) pass a validated written Freedman and Bernstein MSK examination (FB-MSK).

Secukinumab-associated localized granuloma annulare (SAGA): a case report and review of the literature.

Granuloma annulare (GA) is a benign, usually self-limited inflammatory skin dermatosis characterized clinically by pink-red to brown dermal papules or annular plaques. The main histologic feature is the presence of palisading or interstitial granulomas composed of necrobiotic collagen, elastic fibers, and mucin surrounded by a lymphohistiocytic infiltrate. Granuloma annulare is commonly associated with trauma, infections, diabetes mellitus, dyslipidemia, malignancy, thyroid disease, and a variety of medications.

The importance of caveolins and caveolae to dermatology: Lessons from the caves and beyond.

Caveolae are flask-shaped invaginations of the cell membrane rich in cholesterol and sphingomyelin, with caveolin proteins acting as their primary structural components that allow compartmentalization and orchestration of various signalling molecules. In this review, we discuss how pleiotropic functions of caveolin-1 (Cav1) and its intricate roles in numerous cellular functions including lipid trafficking, signalling, cell migration and proliferation, as well as cellular senescence, infection and inflammation, are integral for normal development and functioning of skin and its appendages. We then examine how disruption of the homeostatic levels of Cav1 can lead to development of various cutaneous pathophysiologies including skin cancers, cutaneous fibroses, psoriasis, alopecia, age-related changes in skin and aberrant wound healing and propose how levels of Cav1 may have theragnostic value in skin physiology/pathophysiology.

DNAJC13 p.Asn855Ser, implicated in familial parkinsonism, alters membrane dynamics of sorting nexin 1.

DNAJC13 (RME-8) is a core co-chaperone that facilitates membrane recycling and cargo sorting of endocytosed proteins. DNAJ/Hsp40 (heat shock protein 40) proteins are highly conserved throughout evolution and mediate the folding of nascent proteins, and the unfolding, refolding or degradation of misfolded proteins while assisting in associated-membrane translocation. DNAJC13 is one of five DNAJ 'C' class chaperone variants implicated in monogenic parkinsonism.

Altered dopamine release and monoamine transporters in Vps35 p.D620N knock-in mice.

Vacuolar protein sorting 35 (VPS35) is a core component of the retromer trimer required for endosomal membrane-associated protein trafficking. The discovery of a missense mutation, p.D620N implicates retromer dysfunction in the pathogenesis of Parkinson's disease (PD).

Patients' prediction of their wound healing time.

Understanding and managing patients' expectations can help improve their adherence to treatment for chronic wounds; however, little is known concerning about their expectations regarding healing time. Recruited subjects were asked to predict how long their wounds would take to heal and their charts were reviewed to retrieve real time of healing. We recruited 100 subjects from which 77% have healed.

Widespread Skin Necrosis Secondary to Gemcitabine Therapy.

Gemcitabine, a pyrimidine nucleoside analogue, is an oncologic agent used in the treatment of cutaneous T-cell lymphoma (CTCL). Common dermatologic reactions associated with gemcitabine include alopecia, mild skin rash, and mucositis but skin necrosis is exceptional. Herein we present an unusual case of widespread skin necrosis mimicking toxic epidermal necrolysis in a 45-year-old woman receiving gemcitabine therapy for stage IIIA cutaneous T-cell lymphoma.

Primary Cribriform Carcinoma of the Eyelid With Neuroendocrine Features: A Case Report.

A variety of tumors may involve the eyelid, most of which are primary, but rarely can be metastatic. Previously reported eyelid primary carcinomas with neuroendocrine features include Merkel cell carcinoma, apocrine and eccrine gland carcinoma, sebaceous gland carcinoma, and one report of primary "well-differentiated neuroendocrine tumor." Herein we report the first case of primary cribriform carcinoma of the eyelid with neuroendocrine features.

A Review of Cellular and Acellular Matrix Products: Indications, Techniques, and Outcomes.

Background: Wound healing is a dynamic process whereby cells, growth factors (GFs), and the extracellular matrix (ECM) interact to restore the architecture of damaged tissue. Chronic wounds can be difficult to treat due to the increased presence of inflammatory cells that degrade the ECM, GF, and cells necessary for wound healing to occur. Cellular and acellular matrix products can be used in the management of a variety of chronic wounds including venous, diabetic, and pressure ulcers and other conditions such as burns, epidermolysis bullosa, pyoderma gangrenosum, and surgical wounds.