Distal Type Research Articles

A Case of Angiomatoid Epithelioid Sarcoma Mimicking an Epithelioid Vascular Neoplasm

Epithelioid sarcoma is a rare but aggressive soft tissue sarcoma that presents a significant diagnostic and management challenge to clinicians. We report a 31-year-old female who presented with a non-healing ulcer of three years’ duration on her left thumb after a burn. Examination revealed an ulcerative tumour invading the bone with areas of haemorrhage. Microscopic examination showed an epithelioid neoplasm with central necrosis. The neoplastic cells formed dyscohesive sheets, slit-like channels, and pseudovascular spaces. Erythrocytes were frequently observed in these areas. The neoplastic malignant cells were diffusely positive for cytokeratin AE1/AE3, EMA, vimentin, Fli-1; while focally positive for CD34 and CD31. The morphology and immunophenotype overlap with a vascular neoplasm. Additional immunohistochemical stain revealed loss of SMARCB1/INI1 expression supporting the diagnosis of epithelioid sarcoma of distal type, angiomatoid variant. We present a distinctive case of angiomatoid epithelioid sarcoma that developed in a burn ulcer and highlight pathological characteristics that distinguish it from epithelioid vascular neoplasms.

Karpal kemik morfolojisi ile distal radius kırık paterni arasındaki ilişki

Abstract
 Background: In this study, we examined whether carpal bones (lunate, hamate, capitate) morphologies and fourth metecarp-capitate articulation have an effect on the distal radius fracture pattern.
 
 Methods: 206 patients who applied to the emergency department with distal radius fracture between 2016-2020 were included in the study. Preoperative and pre-reduction x-ray films of the patients were examined. Lunate, hamate, capitate morphologies and 4.metacarp articulation analyzed and classified. Distal radius fracture types were classified according to AO and Fernandez. The relationship between carpal bone morphology and distal radius fracture type was analyzed.
 
 Results: This study consisted of 101 men and 103 women. AO fracture types and carpal bone morphologies (lunate joint type according to Viegas, lunate type according to Zapico, capitate morphology, hamate morphology and capitate-4 metacarpal joint morphology) did not differ significantly (p > 0.05). Fernandez fracture types and carpal bone morphologies (lunate joint type according to Viegas, lunate type according to Zapico, capitate morphology, hamatum morphology and capitate-4.metacarp joint morphology) were compared, there was no significant difference (p > 0.05).
 Conclusion: As a result, no clear relationship could be demonstrated between carpal bone morphology and distal radius fracture pattern.

Comprehensive evaluation of three-dimensional anatomy of perigastric vessels using enhanced multidetector-row computed tomography

BackgroundTo perform laparoscopic gastrectomy safely, we aimed to comprehensively re-evaluate perigastric vessel anatomies using a three-dimensional angiography reconstructed from enhanced multidetector-row computed tomography data.MethodsPerigastric vessel anatomy was preoperatively analyzed using a multidetector-row computed tomography-based three-dimensional angiography reconstructed in 127 patients undergoing gastric surgery.ResultsOf the 67 left gastric veins that ran along the dorsal side of the arteries, 59 (88.1%) ran along the dorsal side of the common hepatic artery and flowed into the portal vein. In 18 cases, a common trunk of one to three left gastric arteries and the replaced left hepatic artery was observed. The left inferior phrenic artery ramified from the left gastric artery in 5.5% of the cases. The right gastric artery was classified into distal (73.2%), caudal (18.1%), and proximal (8.7%) types. The infra-pyloric artery was also classified into distal (64.6%), caudal (26.0%), and proximal (9.4%) types. The posterior gastric artery branched as a common trunk with the superior polar artery in the proximal (37.9%) and distal (18.4%) regions of the splenic artery. The left gastroepiploic artery ramified from the splenic (18.1%) and inferior terminal arteries (81.9%). No, one, and two gastric branches of the left gastroepiploic artery, which ramified between the roots of the left gastroepiploic artery and its omental branch, were found in 36.5%, 49.2%, and 14.3% of the cases, respectively.ConclusionsPreoperative 3D angiography is useful for the precise evaluation of perigastric vessel anatomies, and may help us to perform laparoscopic gastrectomy and robotic surgery safely.

Early and extensive alterations of glial connexins, distal oligodendrogliopathy type demyelination, and nodal/paranodal pathology are characteristic of multiple system atrophy.

The pathological hallmark of multiple system atrophy (MSA) is aberrant accumulation of phosphorylated α-synuclein in oligodendrocytes, forming glial cytoplasmic inclusions (GCIs). Extensive demyelination occurs particularly in the olivopontocerebellar and striatonigral pathways, but its precise mechanism remains elusive. Glial connexins (Cxs), which form gap junction channels between astrocytes and oligodendrocytes, play critical roles in myelin maintenance, and have not been studied in MSA. Therefore, we immunohistochemically investigated glial Cx changes in the cerebellar afferent fibers in 15 autopsied patients with MSA. We classified demyelinating lesions into three stages based on Klüver-Barrera staining: early (Stage I), intermediate (Stage II), and late (Stage III) stages showing subtle, moderate, and severe myelin reduction, respectively. Myelin-associated glycoprotein, but not myelin oligodendrocyte glycoprotein, was preferentially decreased in Stage I, suggesting distal oligodendrogliopathy type demyelination. Accumulation of phosphorylated α-synuclein in oligodendrocytes was frequently seen in Stage I but less frequently observed in Stages II and III. Tubulin polymerization-promoting protein (TPPP/p25α)-positive oligodendrocytes were preserved in Stage I but successively decreased in Stages II and III. Even at Stage I, Cx32 was nearly absent from myelin, despite the relative preservation of other nodal proteins, such as neurofascin, claudin-11/oligodendrocyte-specific protein, and contactin-associated protein 1, which successively decreased in the later stages. Cx32 was re-distributed in the oligodendrocyte cytoplasm and co-localized with GCIs. Cx47 gradually decreased at the oligodendrocyte surface in a stage-dependent manner but was not co-localized with GCIs. Astrocytic Cx43 was down-regulated in Stage I but up-regulated in Stages II and III, reflecting astrogliosis. Cx43/Cx47 gap junctions significantly decreased from Stage I to III. Activated microglia/macrophages and T cells infiltrated in Stage I rather than Stages II and III. Therefore, early and extensive alterations of glial Cxs, particularly Cx32 loss, occur in MSA and may accelerate distal oligodendrogliopathy type demyelination and nodal/paranodal dysfunction through disruption of inter-glial communication.

Epidemiological survey of patients with psoriatic arthritis in the Japanese Society for Psoriasis Research from 2017 to 2020.

The Japanese Society for Psoriasis Research (JSPR) conducted annual epidemiological surveys of patients with psoriatic arthritis (PsA). This study aimed to analyze a recent epidemiological survey of enrolled PsA patients in the JSPR from 2017 to 2020. A total of 1641 patients (1032 men [62.9%] and 609 women [37.1%]) were enrolled from 131 medical institutions. The mean ± standard deviation age of the patients was 51.4 ± 13.6 years and those at the onset of skin lesions and joint symptoms were 39.2 ± 15.8 and 47.9 ± 14.0 years, respectively. According to the Moll and Wright criteria, distal, oligoarticular, polyarticular, arthritis mutilans, and axial or spondyloarthritis types were 27.2%, 29.9%, 18.6%, 0.4%, and 6.6%, respectively. Approximately 56.3% of the patients had past history and comorbidities, such as hypertension (35.9%), dyslipidemia (20.7%), diabetes mellitus (19.2%), hyperuricemia (13.5%), cardiovascular disease (4.1%), and cerebrovascular disease (3.9%). Regarding systemic therapy, 55.9% and 45.5% of the patients were treated with oral medications and biologics, respectively. The most common oral medication was methotrexate (39.1%), followed by apremilast (27.4%). Non-steroidal anti-inflammatory drugs were also used in many patients (40.3%). Among the biologics, the most common was adalimumab (30.1%), followed by secukinumab (20.9%) and ixekizumab (17.0%). This survey shows the recent perspective of PsA in the Japanese society, which will lead to a better understanding of this disease, including patient characteristics, comorbidities, and treatment trends.

Lunate Fracture Morphology in Kienbock's Disease-A Computed Tomography Study.

Background The pathogenesis of Kienbock's disease is poorly understood. The coronal fracture line is acknowledged as a poor prognostic marker in the disease. Other fracture types in the Kienbock's wrist have subsequently been identified. Questions/Purposes The aim is to study the fracture morphology of the lunate in a cohort of patients using computed tomography. Methods Patient images were acquired using a set protocol with four-dimensional computed tomography scanning. Images were reviewed by two orthopaedic surgeons and a consultant radiologist. Static and dynamic images were assessed and a fracture map created. The relationship of fracture type to other parameters was then analyzed. Results Twenty-three patients were included in the study, including 11 males and 12 females, with a mean age of 43 years. Total frequency of fracture lines in the cohort was coronal - 26, proximal subchondral bone plate type - 24, avulsion - 19, sagittal - 16, and distal subchondral bone plate type - 11. There were statistically significantly more proximal than distal subchondral bone plate fractures ( p = 0.03), and more coronal fractures than distal subchondral bone plate fractures ( p = 0.01). There were statistically significantly more radiolunate ligament-avulsion types ( p <0.001) than other types. The sagittal fracture line through the lunate approximated closely to the ulnar edge of the capitate and the ulnar edge of the radius. Conclusion Study on the fracture morphology in the Kienbock's wrist has improved our understanding of the disease pathogenesis. Fracture lines may correspond to loading points, intrinsic and extrinsic ligament avulsions. These fracture types may play a role in disease progression and are important to identify when considering lunate salvage surgery.

Metastatic proximal-type epithelioid sarcoma presenting as a chest lesion with a pathological fracture of the humeral neck

Introduction: Proximal-type epithelioid sarcoma is a rare soft tissue neoplasm which occurs mostly in young males and is much rarer than classic distal sub type. A young male, with a known diagnosis of neurofibromatosis type 1 (NF1) presenting with metastatic proximal-type epithelioid sarcoma is reported. Case Report: A 30-year-old male with known NF1, hypothyroidism, epilepsy, presented with a right shoulder pain of two weeks duration. Plain radiographs revealed an expansile lytic lesion, an aggressive periosteal reaction in right humeral head with an underlying pathological fracture. A well-defined extrapulmonary mass with a lobulated margin in upper zone of right hemithorax with inferior rib erosion of 3rd rib and the 3rd intercostal space widening were also observed. Contrast-enhanced computed tomography (CECT) chest and abdomen confirmed peripherally located poorly enhancing soft tissue mass with lobulated margins arising from posterior chest wall along with a subdiaphragmatic deposit. Multiple lytic lesions in right head of humerus with an underlying pathological fracture of surgical neck, T2, T6, and L3 vertebral bodies, and pelvic bones were observed too. Diagnosis of malignant peripheral nerve sheath tumor with metastases was made and ultrasound-guided biopsy of chest wall lesion was performed. Histology and immunohistochemistry (IHC) revealed a proximal type epithelioid sarcoma. The patient was managed with palliative surgery and oncological follow-up. Conclusion: Presentation of proximal-type epithelioid sarcoma with disseminated metastases in a patient with NF1 masquerading malignant peripheral nerve sheath tumor (MPNST) and the challenges of diagnosis on clinical, radiological, and histopathology as well as IHC perspectives of this rare disease entity is highlighted.

Anoctamin 5 (ANO5) Muscle Disorders: A Narrative Review.

Anoctaminopathy-5 refers to a group of hereditary skeletal muscle or bone disorders due to mutations in the anoctamin 5 (ANO5)-encoding gene, ANO5. ANO5 is a 913-amino acid protein of the anoctamin family that functions predominantly in phospholipid scrambling and plays a key role in the sarcolemmal repairing process. Monoallelic mutations in ANO5 give rise to an autosomal dominant skeletal dysplastic syndrome (gnathodiaphyseal dysplasia or GDD), while its biallelic mutations underlie a continuum of four autosomal recessive muscle phenotypes: (1). limb–girdle muscular dystrophy type R12 (LGMDR12); (2). Miyoshi distal myopathy type 3 (MMD3); (3). metabolic myopathy-like (pseudometabolic) phenotype; (4). asymptomatic hyperCKemia. ANO5 muscle disorders are rare, but their prevalence is relatively high in northern European populations because of the founder mutation c.191dupA. Weakness is generally asymmetric and begins in proximal muscles in LGMDR12 and in distal muscles in MMD3. Patients with the pseudometabolic or asymptomatic hyperCKemia phenotype have no weakness, but conversion to the LGMDR12 or MMD3 phenotype may occur as the disease progresses. There is no clear genotype–phenotype correlation. Muscle biopsy displays a broad spectrum of pathology, ranging from normal to severe dystrophic changes. Intramuscular interstitial amyloid deposits are observed in approximately half of the patients. Symptomatic and supportive strategies remain the mainstay of treatment. The recent development of animal models of ANO5 muscle diseases could help achieve a better understanding of their underlying pathomechanisms and provide an invaluable resource for therapeutic discovery.

284. VALUE OF EXTENDED AND TOTAL MEDIASTINAL LYMPHADENECTOMY IN ESOPHAGEAL TUMORS

Abstract The extent of lymphadenectomy in esophageal cancer surgery is a point of controversy at present, although the most recent evidence shows that survival is directly related to the number of nodes removed during surgery. Descriptive study of patients with esophageal neoplasia who underwent esophagectomy with extended and total mediastinal lymphadenectomy by minimally invasive approach (right prone thoracoscopy, laparoscopy and left cervicotomy) in our center from January 2019 to December 2021. The data of patients included were retrospectively examined. Extended lymphadenectomy was indicated in patients with distal third adenocarcinoma type tumors while total lymphadenectomy was indicated in patient with squamous tumors and middle third adenocarcinoma. The primary endpoint was the incidence of affected lymph nodes in the upper mediastinum based on pathological examination. The secondary endpoint was to analyze the short-term outcomes. A total of 45 patients were included (26.7% extended and 73.3% total mediastinal lymphadenectomy). The median number of removed nodes was 2 (IQR 4–1) and 2 (IQR 3–1) in the right and left recurrent area, respectively. Overall, the median incidence of recurrent lymph node metastases was 11.1%. Twenty percent of the patients with adenocarcinoma (100% distal third) and 0% of the patients with squamous cell carcinoma had positive recurrent nodes. Ninety-day mortality was 15.6%. With respect to postoperative complications such as recurrent laryngeal nerve paralysis was present in 24.4%. Anastomotic leakage was present in 20% (4.4% thoracic and 15.6% cervical). Based on our results, extended and total lymphadenectomy increases both the overall number of lymph nodes removed and the number of affected nodes. This prevalence of positive recurrent nodes is not negligible. This greater radicality is associated with significant morbidity. The results of this study support the performance of extended lymphadenectomies also in distal third adenocarcinomas.

Comparison of Lateral Pinning and Cross Pinning Results in Pediatric Distal Humerus Supracondylar Gartland Type 3 Fracture

Comparison of Lateral Pinning and Cross Pinning Results in Pediatric Distal Humerus Supracondylar Gartland Type 3 Fracture

Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities

PurposeThe clinical spectrum of motile ciliopathies includes laterality defects, hydrocephalus, and infertility as well as primary ciliary dyskinesia when impaired mucociliary clearance results in otosinopulmonary disease. Importantly, approximately 30% of patients with primary ciliary dyskinesia lack a genetic diagnosis. MethodsClinical, genomic, biochemical, and functional studies were performed alongside in vivo modeling of DAW1 variants. ResultsIn this study, we identified biallelic DAW1 variants associated with laterality defects and respiratory symptoms compatible with motile cilia dysfunction. In early mouse embryos, we showed that Daw1 expression is limited to distal, motile ciliated cells of the node, consistent with a role in left-right patterning. daw1 mutant zebrafish exhibited reduced cilia motility and left-right patterning defects, including cardiac looping abnormalities. Importantly, these defects were rescued by wild-type, but not mutant daw1, gene expression. In addition, pathogenic DAW1 missense variants displayed reduced protein stability, whereas DAW1 loss-of-function was associated with distal type 2 outer dynein arm assembly defects involving axonemal respiratory cilia proteins, explaining the reduced cilia-induced fluid flow in particle tracking velocimetry experiments. ConclusionOur data define biallelic DAW1 variants as a cause of human motile ciliopathy and determine that the disease mechanism involves motile cilia dysfunction, explaining the ciliary beating defects observed in affected individuals.

Nodular-like glomerular lesion after long-standing chronic renal infection in a patient with medullary sponge kidney and mild hyperglycemia

A 63-year-old Japanese woman was admitted to our institute for the evaluation of proteinuria. The patient was diagnosed with medullary sponge kidney, distal type renal tubular acidosis, and renal infection at the age of 37. Thereafter, the patient had repeated renal infections. Urinary proteinuria appeared at around the age of 61 and gradually increased up to 1.0 g daily. In the same period, glycated hemoglobin (HbA1c) increased to 7.0%. On kidney biopsy, light microscopy showed a nodular glomerular lesion and capsular drop. Linear staining for immunoglobulin G along the glomerular basement membrane was observed by immunofluorescence. Electron microscopy showed thickening of the glomerular basement membrane to a width of 800–900 nm. A class III glomerular lesion was diagnosed according to the Tervaert classification. This case indicates that mild but prolonged hyperglycemia for more than 10 years may also contribute to the formation of nodular lesions, although long-standing repeated chronic renal infection and chronic acidosis may have been a precipitating factor in the formation of diabetic nephropathy, including nodular glomerular lesions. This hypothesis is of interest because nodular lesions specific to diabetes are currently considered to be associated with long-term severe hyperglycemia. Learning points Nodular glomerular lesions in diabetes mellitus are thought to be associated with long-term severe hyperglycemia. This case shows that although mild, long-term hyperglycemia for more than 10 years may also contribute to the formation of nodular lesions and that repeated chronic kidney infections over the years and chronic acidosis may be facilitating factors in the formation of diabetic nephropathy, including nodular glomerular lesions. This case appears to be idiopathic nodular glomerulosclerosis of the medullary sponge kidney associated with chronic urinary tract infection.

A multicenter study on surgical procedure selection and risk factor analysis of postoperative complications after TIP and Duckett hypospadias repair

BackgroundHypospadias is a common congenital malformation in pediatric urology with surgery being the only curative treatment. Although there are hundreds of surgical methods for hypospadias, no single method can treat all types, and there are still high rates of postoperative complications. We performed this study to investigate surgical procedure selection and perform risk factor analysis of postoperative complications in hypospadias repair.MethodsRetrospective analysis was performed of complete clinical and follow-up data of children with hypospadias who were treated and followed up at 15 children’s clinical centers in Mainland China from December 2018 to December 2019. Children were divided into groups according to Barcat classification and surgical methods in order to analyze the surgical choice for different types of hypospadias and the influencing factors of different surgical methods for complications.ResultsIn total, 1011 patients were followed up for 26 months. According to Barcat classification, there were 248 cases of distal type hypospadias, 214 of intermediate, and 549 of proximal type. Transverse preputial island flap urethroplasty (Duckett) and tubularized incised plate urethroplasty (TIP) were performed in 375 (37.1%) and 336 cases (33.2%), respectively. The postoperative complication rate of distal hypospadias was 23.4% (15.8–57.1%), mid shaft 29.0% (22.7–40.0%), and proximal 43.7% (30.2–52.9%). Among the 375 patients in Duckett group, 192 had complications. Multivariate logistic analysis showed that the length of prepuce island flap (OR = 3.506, 95% CI: 2.258–5.442) was an independent risk factor for complications after Duckett operation (P < 0.001). In TIP group, there were 336 cases with 84 complications. Multivariate logistic analysis showed that the width of urethral plate after longitudinal resection (OR = 0.836, 95% CI: 0.742–0.942) and glans width (OR = 0.851, 95% CI: 0.749–0.965) were independent risk factors for postoperative complications after TIP (P = 0.003, P = 0.012).ConclusionSeveral anatomical features play a role during the selection process among the different surgical approaches, including glans size, urethral plate width, and the meatal position. The width of the urethral plate and glans width were risk factors for postoperative complications after TIP. The length of prepuce island flap was a risk factor for complications after Duckett operation.

TTN as a candidate gene for distal arthrogryposis type 10 pathogenesis

BackgroundArthrogryposis is a medical term used to describe congenital contractures which often affect multiple limbs. Distal arthrogryposis (DA) is one of the major categories of arthrogryposis that primarily affects the distal parts of the body, i.e., the hands and the legs. Although ten different types and several subtypes of DAs have been described, the genes associated with each of these DAs are yet to be characterized. Distal arthrogryposis type 10 (DA10) is a rare genetic disease, which is distinguished from the other arthrogryposis types by plantar flexion contractures resulting in toe-walking during infancy as well as variability in contractures of the hip, hamstring, elbow, wrist and finger joints with no ocular or neurological abnormalities. Symptoms of DA10 indicate impairment specifically in the musculoskeletal system. DA10 is still poorly studied. AimThe objective of this study was to identify the candidate gene for DA10 by scrutinizing the protein-protein interaction (PPI) networks using in silico tools. ResultsAmong the genes that reside within the previously reported genomic coordinates (human chromosome assembly 38 or GRCh38 coordinates 2:179,700,000–188,500,000) of the causative agent of DA10, only TTN (the gene that codes for the protein Titin or TTN) follows the expression pattern similar to the other known DA associated genes and its expression is predominant in the skeletal and heart muscles. Titin also participates in biological pathways and processes relevant to arthrogryposes. TTN-related known skeletal muscle disorders follow the autosomal-dominant pattern of inheritance, which is a common characteristic of distal arthrogryposes as well. ConclusionBased on the findings of the analyses and their correlation with previous reports, TTN appears to be the candidate gene for DA10. Our attempt to discover a potential candidate gene may eventually lead to an understanding of disease mechanism and possible treatment strategies, as well as demonstrate the suitability of PPI in the search for candidate genes.

Incidence and risk factors of preoperative deep vein thrombosis in patients with intertrochanteric fractures: a retrospective study

BackgroundThe risk of perioperative complications remains high in patients with intertrochanteric fractures. Immobilization after injury may predispose these patients to deep vein thrombosis (DVT) while waiting for surgery. The aims of this study were to determine the incidence of preoperative DVT in patients with intertrochanteric fractures and identify independent risk factors.MethodsThis retrospective study included patients with intertrochanteric fractures waiting for surgical interventions at our institution from June 2018 to December 2020. All patients received pharmacologic thromboprophylaxis after admission and ultrasound screening for DVT in both lower limbs before surgery. Demographic, clinical and laboratory data of these patients were collected to perform univariate analysis first. Subsequently, factors with a significant difference in univariate analysis were introduced into the multivariate logistic regression analysis to determine the independent risk factors for preoperative DVT.ResultsA total of 266 patients were enrolled in this study. Seventy-one patients (26.7%) developed DVTs before surgery. The majority of DVTs were distal types (91.5%). There were 40 patients with DVTs only in the affected limb, 7 patients with DVTs only in the unaffected limb, and 24 patients with DVTs in both lower limbs. Advanced age, female, prolonged period from injury to admission, combined cranial trauma, shorter thrombin time, increased level of D-dimer and lower level of albumin proved to be the independent risk factors for preoperative DVT.ConclusionsWe observed a high incidence of preoperative DVT in patients with intertrochanteric fractures. Identification of patients at high risk may improve the prevention and treatment of preoperative DVT in this population.

Comparison of hook plate versus T-plate in the treatment of Neer type II distal clavicle fractures: a prospective matched comparative cohort study

BackgroundThis study aimed to compare the clinical and radiological outcomes of distal clavicle fracture fixation with a hook plate versus the standard non-locking T-plate for unstable Neer type II fractures.MethodsA prospective matched cohort study including two groups of hook plates and T-plates fixation was conducted in our two tertiary trauma centers. Patients with distal clavicle fractures Neer type II were assessed for union and the Constant-Murley score (CMS) at 1-, 3-, and 6-month follow-ups. Inadequate radiographic consolidation > 6 months after surgery was defined as non-union. Subscales of CMSpain, CMSactivities of daily living, CMSrange of motion (ROM), and CMSstrength were also compared between groups. According to recommendations, the implant was removed after union confirmation in the hook plate at a planned second surgery.ResultsSixty consecutive patients were enrolled: 30 in the T-plate group and 30 in the hook plate group. CMS showed similar functional outcomes for T-plates and hook plates at all follow-ups (Month 6: 92.0 vs. 91.7, P = 0.45). However, on the month 1 follow-up, the T-plate group scored higher than the hook plate group for ROM and pain (CMSpain = 13.0 vs. 12.3, P = 0.03; CMSROM = 35.2 vs. 33.2, P = 0.002). Despite this, Pain, ROM, and other CMS domains were comparable between groups (P > 0.05). The mean time to union was 2.5 + 1.4 months for the T-plate group and 2.3 + 1.6 months for the hook plate group (P = 0.44). There was one fixation failure in each group and one periprosthetic fracture in the hook plate group (two revisions for the hook plates and one for T-plates, P = 1.00). Non-union and other complications were not observed.ConclusionBoth surgical approaches resulted in full recovery and good function. However, in the hook plate group ROM and pain scores were lower at 1 month. Standard non-locking T-plates are a viable alternative to hook plates with low cost and promising outcomes for treating displaced distal clavicle fractures.

Comparative study of a Y- anatomical and innovative locking plate versus double plate for supracondylar humeral fracture

IntroductionThere is no “gold standard” for the type of plate to be used for distal extra-articular humeral fractures; the most used is plating of each column. The objective was to evaluate the short-term clinical and radiological results of a Y- anatomical and innovative locking plate (YALP). HypothesisThe hypothesis is: this anatomical and innovative locking plate will produce satisfactory and reliable results on extra-articular distal humerus fracture superior to double plate fixation. Materials and methodsIn a retrospective observational multicenter study, all patients with a distal humerus fracture type 13 A2.2 according to AO classification fixed with a new Y-plate (YALP) were compared to the results of double plate fixation for the same type of fracture. With a follow-up of more than 12 months, the objective and subjective clinical elbow criteria as well as the overall function of the upper limb and radiological assessment were collected. ResultsWith an average follow up of 24±11 months, 26 patients met the inclusion criteria and received a YALP and 24 patients received double plate. All patients whose fracture had healed except one were pain-free (mean VAS 0.3±0.6). All patients had good subjective results (mean SEV 96%±4). Elbow function was excellent (mean total MEPS 96±4) with normal triceps strength (23/24 patients had a triceps strength graded 5/5 and one patient 4/5) and range of motion (flexion 139±8, extension −7±8 and pronosupination greater than 155 degrees). The operating time was shorter in the YALP group (84 ± 23minutes versus 97 ± 28minutes, p=0.03). The double plate group had more complications; the overall complication rate was significantly higher (p=0.02) in the double 90-degree plate group (12/24, 50%) with four nonunions, four symptomatic ulnar nerves, three hardware removals for pain and one radial nerve injury versus 5/26 complications (19%, p=0.02) in the Y-plate group: one iliac graft for nonunion, 1 plate removal due to functional discomfort, 1 twisted YALP, 1 broke interfragmentary screw and one symptomatic ulnar nerve. DASH, SEV, MEPS scores and flexion-extension range were better in the YALP group. DiscussionYALP produces satisfactory results in supracondylar fractures of the distal humerus. The results of YALP appear to be better than the results with two 90° plates for the same fracture type with a shorter operative time and easier management of fractures with proximal diaphyseal extension. Level of evidenceIII; case control study.

Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene

BackgroundArthrogryposis multiplex congenita (AMC) is a group of clinically and etiologically heterogeneous conditions, characterized by prenatal onset contractures affecting two or more joints. Its incidence is about 1 in 3000 live births. AMC may be distinguished into amyoplasia, distal and syndromic arthrogryposis. Distal arthrogryposis (DA) predominantly affects hands and feet. It is currently divided into more than ten subtypes (DA1, DA2A/B, DA3–10), based on clinical manifestations, gene mutations and inheritance pattern. Among them, only a few patients with DA5 have been reported. It is associated to a gain-of-function pathogenic variant of the PIEZO2 gene, encoding for an ion-channel necessary to convert mechanical stimulus to biological signals and crucial for the development of joints, neuromuscular and respiratory systems. Main clinical features include multiple distal contractures, short stature, ptosis, ophthalmoplegia and, in some cases, restrictive lung disease.Case presentationHereby, we report on a four-generation Italian family with DA5. Our first proband was a newborn with prenatal suspicion of AMC. At birth, clinical findings were compatible with a DA diagnosis. Family history was positive for the mother with short stature, ophthalmoplegia, short neck, and contractures of the joints of distal extremities, and for three other relatives on the maternal side, including grandfather and great-grandmother, who all shared similar findings. Thus, we performed a next generation sequencing analysis (NGS) of the genes associated to AMC and of those involved in DA. The gain-of-function heterozygous mutation c.8181_8183delAGA (p.Glu2727del) of PIEZO2 was identified in the proband, and the same mutation was also found in the mother, confirming the autosomal dominant inheritance of the condition.ConclusionsOur patients contribute to the current DA5 genomic database, and to a better characterization of the disease. Clinicians may have suspicion of a DA diagnosis based on suggestive (also prenatal) clinical findings, which must be then confirmed by NGS analysis. Since natural history varies widely among different DA disorders, detection of the underlying causal variant is essential for the identification of the exact subtype, and to its adequate management, which must rely on a multidisciplinary and individualized approach.

Volar Locking Plate Compared With Combined Plating of AO Type C Distal Radius Fractures: A Randomized Controlled Study of 150 Cases

The optimal way to stabilize intra-articular distal radius fractures is unclear despite recent advances in surgical management. Volar plating is the most common treatment but may not be sufficient for more complex intra-articular AO type C fractures. The purpose of this randomized controlled study was to evaluate the radiographic and clinical outcomes following surgical treatment of AO type C distal radius fractures, comparing volar with combined plating. In this study, 150 patients were randomized to volar locking plate (n= 75) or combined plating (n= 75) following a distal radius fracture AO type C. The 1-year follow-up included radiographic outcome (Batra score), visual analog scale pain score, hand grip strength, wrist range of motion, Patient-Rated Wrist Evaluation score, and Quick Disabilities of the Arm, Shoulder, and Hand score. Overall, 147 patients (median age 61 years) completed the 1-year follow-up (73 patients with volar plate and 74 with combined plating). No difference was found in radiographic outcome between the treatment groups. The volar plate group had significantly better Patient-Rated Wrist Evaluation scores, Quick Disabilities of the Arm, Shoulder, and Hand scores, hand grip strength, visual analog scale scores during activity, and flexion, extension, ulnar and radial deviation than the combined plate group. Hardware removal was performed in 10% in the volar plate group and in 31% in the combined plate group. There was no postoperative infection in the volar plate group but 3 cases in the combined plate group. In patients with complex AO type C intra-articular fractures, volar and combined plating yielded the same radiographic result. The differences in Patient-Rated Wrist Evaluation and Quick Disabilities of the Arm, Shoulder, and Hand scores between the groups did not reach the thresholds for minimal clinically important differences, suggesting similar clinical outcome. The combined plating group had a considerably higher frequency of hardware removal and postoperative infections. Therapeutic I.

Sjogren- Larsson Syndrome with Type-1 Distal Renal Tubular Acidosis in Siblings

Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive lipid metabolic disorder caused because of the defect in fatty alcohol oxidation resulting from fatty aldehyde dehydrogenase (FALDH3A2) deficiency. Sjogren-Larsson syndrome is constituted by the trio of generalised spastic paralysis, intellectual impairment, &amp; ichthyosis. The inability of hydrogen ions secretion from the distal tubule characterises dRTA (distal (Type 1) renal tubular acidosis). The dRTA aetiology is diverse, but it can be acquired or inherited. We report siblings who presented with congenital ichthyotic hyperkeratosis, spastic diplegia and severe learning disabilities, which were suggestive of SLS. Distal renal tubular acidosis diagnosis was done on the basis of severe serum hypokalaemia, urine electrolytes showing high potassium levels, metabolic acidosis with a positive anion gap, high pH of urine, Urinary &amp; Blood PCO2 difference (UB PCO2) on the lower side, (FeHCO3%) showing mild bicarbonaturia (&lt;5%), medullary nephrocalcinosis, Hypercalciuria as well as the omission of other differential diagnosis. Management in SLS was supportive. The child demonstrated symptomatic improvement after starting standard therapy for SLS &amp; distal renal tubular acidosis. To conclude, distal renal tubular acidosis ailment in children can be controlled with a good long-term prognosis, but precise diagnosis as well as management are critical. Early detection can assist the physician in implementing appropriate supportive care as well as possible curative gene therapy. Keywords: Ichthyosis, spastic diplegia, Intellectual disability, Distal Renal Tubular Acidosis, Hypokalaemia