Fhl

BACKGROUND: Familial hemophagocytic lymphohistiocytosis (FHL) is an immunological disorder characterized by overactivation of macrophages and T lymphocytes. This autosomal recessive condition has been characterized into multiple types depending on the genetic etiology. FHL type 3 is associated with bi-allelic pathogenic variants in the UNC13D gene. CASE PRESENTATION: We present a 12-year diagnostic odyssey for a family with FHL that signifies the advances of FHL genetic testing in a clinical genetic diagnostic laboratory setting...

Heart diseases are a major cause of morbidity and mortality worldwide. Understanding the molecular mechanisms underlying these diseases is essential for the development of effective diagnostic and therapeutic strategies. The FHL family consists of five members: FHL1, FHL2, FHL3, FHL4, and FHL5/Act. These members exhibit different expression patterns in various tissues including the heart. FHL family proteins are implicated in cardiac remodeling, regulation of metabolic enzymes, and cardiac biomechanical stress perception...

The claw toe deformity is characterized by the flexion of interphalangeal joints (IPJs) with hyperextension of the metatarsophalangeal (MTP) joint. It can be flexible and reducible or rigid and irreducible, or dynamic. The most common cause of dynamic claw toes is a neurological disorder, like sequelae of an ischemic contracture of the muscle belly after a compartment syndrome. Most of the surgical techniques require multiple procedures and may be associated with complications such as toe stiffness, persisting metatarsalgia, and toe malalignment...

INTRODUCTION: To assess outcomes of FHL transfer and V-Y plasty for chronic Achilles rupture due to insertional Achilles tendinopathy. MATERIALS AND METHODS: A case series of 12 patients was conducted between 1st January 2017 and 31st December 2018. The patients had short flexor hallucis longus tendon transfer with gastrocnemius lengthening by V-Y plasty for Achilles tendon rupture. Patients were allowed full weight bearing at six weeks post-operatively, and were followed up at three months and six months post-operatively, when the range of motion of the ankle was examined, and the outcome was assessed using the EFAS score...

BACKGROUND: Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is a rare hyper-inflammatory syndrome caused by mutations in STXBP2. Most cases present at 2 - 6 months of age, and FHL-5 is extremely rare in neonates. METHODS: Appropriate laboratory tests, abdominal ultrasonography and whole exome sequencing were carried out. Respiratory support, antibiotics, and transfusion of blood products were done. RESULTS: Laboratory tests revealed metabolic acidosis, thrombocytopenia, mild anemia, and low fibrinogen level...

BACKGROUND: Since its discovery as a facial aesthetic treatment >30 years ago, onabotulinumtoxinA has received worldwide approval for dynamic upper facial line treatment. OBJECTIVE: Meta-analysis examining the safety of onabotulinumtoxinA for treatment of glabellar lines (GL), crow's feet lines (CFL), and forehead lines (FHL). METHODS: Participants ( N  = 5298) with moderate to severe GL, CFL, or FHL at maximum contraction received onabotulinumtoxinA or placebo in 1 of 18 registration studies (14 double-blind, placebo-controlled [DBPC]; 1 double-blind; 3 open-label)...

The Ligament Advanced Reinforcement System (LARS) is a common choice for ligament reconstruction in the lower limb due to its good functional and quality of life (QoL)-related outcomes. It is commonly used for Achilles tendon repair following a rupture. While it facilitates tissue ingrowth and boasts good biocompatibility, we report on multiple cases whereby foreign body reactions have led to the growth of granulomas requiring surgical excision and Flexor Hallucis Longus (FHL) transfer. Following these cases, patients have been shown to have excellent functional and QoL-related outcomes using the Manchester Oxford Foot Questionnaire (MOX-FQ) and Foot and Ankle Ability Measure (FAAM)...

Flexor hallucis longus (FHL) transfer is an effective surgery in treating insertional Achilles tendinopathy (IAT). However, limited data exist regarding the post-surgery changes in the transferred FHL. The study aimed to compare the sequential changes and hypertrophy of FHL after isolated FHL transfer (FHLT). We retrospectively enrolled patients who underwent isolated FHLT for insertional Achilles pathology from 2015 to 2020 and divided them into two groups based on whether reattachment of the residue Achilles stump to the FHL was performed or not...

BACKGROUND: A number of studies have reported that calf muscle atrophy is a common long-term problem after Achilles tendon repair; however, there is still a lack of data concerning early postoperative morphological changes in the calf muscle after surgery. PURPOSE: To investigate changes over time in calf muscle volume and fatty degeneration during 1 year after Achilles tendon repair. STUDY DESIGN: Cohort study; Level of evidence, 2. METHODS: A prospective 1-year serial magnetic resonance imaging study was carried out with 20 patients who underwent tendon repair for unilateral acute Achilles tendon rupture...

BACKGROUND: Arthrokinematics (caudal and posterior movements of the talus) and posterior soft tissues of the ankle during ankle dorsiflexion have not been objectively evaluated in detail. This study aimed to investigate the characteristics of arthrokinematics and posterior soft tissues of the ankle during ankle dorsiflexion using ultrasound. METHODS: Thirteen healthy adults participated in the study. Participants whose passive dorsiflexion range of motion (ROM) of the ankle joint was <35° were classified as the restricted group (n = 6), and participants whose passive ankle dorsiflexion ROM was ≥35° were classified as the control group (n = 7)...

Checkrein deformity is a rare entity that results in alteration of the normal flexion and extension of the hallux, caused by a retraction or adhesion of the flexor hallucis longus (FHL) in its tendinous or muscular portion. It is usually caused by the sequelae of ankle and tibia fractures, such as adhesions and neuropathies, and often undiagnosed compartment syndromes. Its treatment is mainly surgical, and different techniques of release or lengthening of the FHL have been described. We present the clinical case of a 61-year-old patient treated by a simple arthroscopic tenotomy of the FHL at the retromalleolar level of the ankle, with complete functional recovery and absence of recurrence after 2 years of evolution...

INTRODUCTION: The Flexor Hallucis Longus (FHL) is a muscle that can be subject to multiple impingements caused by exaggerated plantar flexion in athletes. The most common impingement is due to inflammation of the tendon at the retrotalar pulley. The constraints exerted on the FHL are responsible for a pathology called functional Hallux Limitus. Surgical treatment consists of tenolysis of the FHL arthroscopically or via open surgery, by opening the pulley. The objective of this study was to evaluate the risk of lesions of the neurovascular pedicle and the posterior tibial tendon after tenolysis of the Flexor Hallucis Longus under ultrasound guidance...

BACKGROUND: The predictors of post-traumatic osteoarthritis (PTOA) in patients with transverse acetabular fractures (TAFs) following open reduction internal fixation (ORIF) remain unclear. This study aimed to investigate the risk factors for PTOA in TAFs after ORIF. METHODS: Data of TAF patients receiving ORIF were collected from January 2012 and February 2021. Patients suffered PTOA were classified as the osteoarthritis group (OG), while those without PTOA were classified as the non- osteoarthritis group (NG) with a minimum follow-up of 2 years...

BACKGROUND: As no evidence-based treatment guidelines exist for chronic Achilles tendon rupture (CATR), a systematic review of the literature was performed to compare the different treatment options and recommend a literature-based algorithm. METHODS: In June 2022, MEDLINE, Embase, and Cochrane Library databases were systematically reviewed based on the PRISMA guidelines. The level of evidence (LOE) and quality of evidence were evaluated, and statistics on clinical outcomes and complications were calculated...

There are multiple surgical options for treatment of chronic Achilles tendon (AT) rupture according to the classifications and length of defect. However, no gold standard method has been confirmed, and there is no clear evidence to support the superiority of 1 procedure over others. This study aimed to evaluate the long-term clinical outcome of flexor hallucis longus tendon (FHL) transfer for chronic AT rupture with large defect. Clinical data of patients treated with FHL transfer due to chronic AT rupture between January 2009 and October 2019 were reviewed retrospectively...

OBJECTIVE: Functional hearing loss (FHL) is a disorder in which there are abnormal values on a hearing test, despite the absence of organic abnormalities in the peripheral and central auditory pathways. Here, we examined the developmental characteristics of FHL and the importance of intervention by analyzing the clinical characteristics of children with this disorder. METHODS: We retrospectively examined 16 patients assessed under a diagnosis of FHL. After interventions such as psychological counseling by our pediatrics and psychiatry departments, we compared the clinical profiles of patients in which hearing was "improved/normalized" and "unimproved"...

INTRODUCTION AND IMPORTANCE: In rare cases of ankle fracture dislocation, PTT can be incarcerated in the ankle syndesmosis. We report a case of a patient who had a fracture-dislocation of the ankle with the interposition of PTT in the ankle syndesmosis and discuss a systematic review of injury mechanics, pathology, diagnosis, management, and outcomes of this injury. CASE PRESENTATION: I reported a 43-year-old patient presented with an irreducible lateral displacement of the talus after ORIF of the malleolar ankle fractures and fixation of ankle syndesmosis...

INTRODUCTION: Foot pressure changes and morbidity after Flexor hallucis longus(FHL) transfer in chronic retracted Tendoachilles(TA) tears have not been documented. The primary aim of our study is to analyze the peak pressure changes in various zones of the foot at each successive follow-up in the affected foot versus normal foot. The secondary aim is to determine Flexor hallucis longus(FHL) healing and Hypertrophy. METHODS: This is a prospective study of 46 patients who underwent FHL augmentation for retracted TA tears (between 2019-2022)...

OBJECTIVE: This study aimed to compare the effect of different physical training on the mechanism of ceramidedependent insulin resistance in the flexor hallucis longus (FHL) muscle of diabetic rats. MATERIALS AND METHODS: In this experimental study, 7 healthy as a healthy control (HC) group, and 21 diabetics (55 mg/ kg Streptozotocin) Wistar rats (200-220 g; 8-10 weeks old) divided into the diabetic control (DC), moderate continuous training (MCT), and moderate intensity interval training (MIIT) groups...

Hemophagocytic Lymphohistiocytosis (HLH) is a group of disorders culminating in systemic inflammation and multi-organ failure with high incidence of hepatic dysfunction. Overproduction of IFN-γ is the main immunopathological driver in this disorder. Monokine induced by IFN-γ (CXCL9) serves as a biomarker for disease activity and response to treatment in this disorder. However, very little is understood about the actual functional role of CXCL9 in pathogenesis in HLH. In the current study, we sought to determine the role of CXCL9 in pathogenesis in murine models of both Familial HLH (prf1-/- ) and Toll Like Receptor (TLR) 9 repeated stimulation induced Macrophage Activation Syndrome (MAS), a form of secondary HLH...