Severe Constriction Research Articles

Multidisciplinary Oral Rehabilitation of Complex Frontonasal Dysplasia: A Case Report.

This case report presents the multidisciplinary treatment of a male patient with a complex form of frontonasal dysplasia who presented with a 0 to 14 facial cleft, mild hypertelorism, absence of the nasal medial process of the nose, and frontonasal encephalocele. Cranial and plastic surgeries were performed to correct hypertelorism and improve the esthetic appearance of the frontonasal region. In the permanent dentition, the patient presented a Class II, division 1 malocclusion with severe maxillary constriction and bilateral posterior crossbite. Comprehensive orthodontic treatment started at 12 years of age and included rapid maxillary expansion followed by fixed appliance. Orthognathic surgery was performed at 21 years of age involving a forward movement of both maxilla and mandible. After debonding, veneers were made in maxillary anterior teeth to improve tooth shape and Bolton discrepancies. An improvement in facial esthetics and an adequate final occlusion were achieved. Multidisciplinary treatment was essential for morphological rehabilitation and social inclusion in patients with rare craniofacial anomalies.

Early aggressive constriction resection for hourglass-like constriction of peripheral nerve in the upper extremity: a retrospective study

ObjectivesThe hourglass like constriction (HGC) of peripheral nerves is a characteristic pathological manifestation of Neuralgic Amyotrophy. Once identified, early surgical intervention is essential. However, the method of surgery is controversial, particularly regarding whether HGC needs to be excised. This study aims to explore the efficacy of early aggressive resection of HGC in the upper limb nerves. Materials and methodsThis retrospective study focuses on 13 nerves of spontaneous upper limb paralysis treated at our hospital from June 2019 to July 2023, in which HGC was identified during surgery. During surgery, epineurectomy and interfascicular neurolysis were performed on the constricted areas. Post-neurolysis, constriction excision was carried out if any of the following conditions were met: (1) A single constriction with constriction ≥75%. (2) Constriction combined with torsion. (3) The presence of ≥2 constrictions. Regular face-to-face follow-ups were conducted postoperatively. ResultsFour cases with a single constriction of less than 75% underwent epineurotomy and interfascicular neurolysis; eight underwent constriction excision, of which four cases with a single constriction and associated torsion had direct end-to-end suturing after excision, and four had more than two constrictions treated with autologous sural nerve grafts. Postoperative follow-ups showed good recovery in all but one case, which had unique pathological features and had underwent only epineurectomy, showing moderate recovery. ConclusionsFor early surgical treatment of HGCs in peripheral nerves of the upper limbs, if severe constriction, constriction combined with torsion, or the presence of more than two constrictions are identified during surgery, aggressive constriction resection may be a better option.

Tenoscopic‐assisted subcutaneous approach to a plantar annular ligament desmotomy in a horse with severe constriction of the fetlock canal

SummaryThe desmotomy of the palmar/plantar annular ligament (PAL) is recommended when it hinders the sliding motion of the flexor tendons in the sesamoidean canal, leading to persistent lameness that often does not improve with conservative treatment. Tenoscopic‐assisted PAL desmotomy can be accomplished with various instruments via an intrathecal approach. However, severe constriction or adhesions within the fetlock canal can restrict manoeuvrability and access of instruments within the sheath, preventing safe and effective transection of the ligament. This case report describes the successful use of a hook knife via a subcutaneous approach to safely transect the PAL under tenoscopic visualisation in a horse where severe constriction of the fetlock canal prohibited the standard intrathecal approach. In similar chronic tenosynovitis cases, a subcutaneous approach to PAL transection at the start of the tenoscopic examination of the digital flexor tendon sheath may minimise iatrogenic injury to intrathecal structures.

A Study of the Clinical Profiles of Patients With Hepatorenal Syndrome.

Background and objective Hepatorenal syndrome (HRS)is a systemic disorder that affects both the kidneys and the liver. HRSrefers to the occurrence of kidney failure in individuals with advanced liver cirrhosis, portal hypertension, and ascites, without any underlying kidney disease. The interplay of systemic and portal hemodynamics causes severe constriction of blood vessels in the kidneys, which defines HRS. The study aims to illuminate the demographic profiles, etiology, and outcomes of patients with HRS. Material and methods The study was designed as a prospective, cross-sectional, hospital-based observational studyconducted at Dr. D.Y. Patil Medical College, Hospital, and Research Centre in Pimpri, Pune. The study period spans from September 2022 to June 2024. Before commencement, approval was obtained from the institutional ethics committee, and informed written consent was secured from all participating patients. The sample size consists of 100 patients diagnosed with HRS, selected from the general medicine outpatient department, wards, and ICU of Dr. D.Y. Patil Hospital and Research Centre. A comprehensive clinical history was recorded for all patients, focusing on the symptoms of cirrhosis and HRS, followed by a thorough examination for related signs and symptoms. Results Among the 100 patients included in this study on HRS, 25% (N=25) fell within the age range of 18-30 years, and 76% (N=76)were identified as male. Alcoholic cirrhosis accounted for 78% (N=78)of cases, with hepatitis B infection being the subsequent leading cause. The mortality rate was 12% (N=12)while the survival rate was 88% (N=88). Conclusion This study provides insights into the demographic profile, etiology, and outcomes of HRS. The results of this study contribute valuable insights into the complex nature of HRS, highlighting the importance of early detection and monitoring to optimize patient care.

An Innovative Apical-4-Chamber-long-axis Imaging Approach Precisely Tracks Progressive Deterioration of Mouse Ventricles, Atria, and Atrioventricular Valves

Transthoracic echocardiography stands as the primary non-invasive method for cardiac function evaluation in clinical settings. It’s widely used to assess chamber sizes, heart wall integrity, as well as the hemodynamic performance of the left ventricle (LV), right ventricle (RV), atria, and valves. However, applying comprehensive echocardiography assessments to mice has been challenging, primarily due to diffculties in obtaining on-axis apical 4-chamber views; most mouse studies have thus been restricted to evaluating the LV using short-axis M-mode assays. To overcome this limitation, we’ve recently developed a novel methodology to consistently obtain high-quality apical 4-chamber-long-axis (A4CLAX) view images of mouse heart. This advancement permits a range of clinically relevant functional assessments, including Long Axis Biplane (LAX-BP) assay, which has been shown to surpasses M-mode in estimating LV function. In this study, we delve into the breadth of comprehensive echocardiography assessments made possible for mice through the A4CLAX imaging approach. We performed a severe transverse aortic constriction (TAC) surgery on mice and monitored the pathological development in their hearts post-surgery. Alongside the expected hypertrophy, the LAX-BP assay revealed LV volumetric dilation as early as 1-week after TAC surgery Indicative of decompensated heart failure; however, m-mode was not able to pick up on this early dilation due to its lack of longitudinal assessment and inconsistent measurements of EDV and ESV. The apical 4 chamber view significantly improved the consistency and reliability of trans mitral and pulmonary vein doppler recordings and enabled us to reliably estimate the pressure relationships of the LV and Left Atrial (LA) pressure, which is consistent with the LAX-BP detected LV decompensation. Additionally, the high clarity of the 4 chamber images achieved improved visualization of both mitral and tricuspid valve leaflets. This allowed more precise characterization of valvular issues, including mitral regurgitation caused by LV dilatation, as well as identification of less common pathological occurrences like desynchronization of the tricuspid and mitral valve opening. A speckle tracking assay of the Right ventricle (RV) showed that a delayed contraction of the lateral apical RV wall caused the tricuspid valve to not open during the early filling phase, but rather at the atrial kick, leading to this valve desynchrony. This delayed contraction indicates a possible elevation of pulmonary pressure, as evidenced by pulmonary vein doppler indices and the analysis of pulmonary congestion. In conclusion, the innovative A4CLAX imaging technique revolutionizes murine heart analysis, bringing it in line with clinical echocardiography standards allowing for a whole heart analysis approach. It sensitively identifies subtle anomalies, providing a precise characterization of cardiac remodeling and disease progression in mouse hearts. This study has been supported by grants NIH-R01HL139006 and R21OD031965. This is the full abstract presented at the American Physiology Summit 2024 meeting and is only available in HTML format. There are no additional versions or additional content available for this abstract. Physiology was not involved in the peer review process.

Interactions of SARS-CoV-2 nsp7 or nsp8 with nsp12 causes severe constriction of RNA entry channel: Implications for novel RdRp inhibitor drug discovery

Interactions of SARS-CoV-2 nsp7 or nsp8 with nsp12 causes severe constriction of RNA entry channel: Implications for novel RdRp inhibitor drug discovery

Functional and Radiological Outcome of Meniscal Repair and Conservative Management for Medial Meniscal Root Tear - A Prospective Comparative Study.

To sustain hoop stress, prevent extrusion, and maintaining the function of the meniscus, the posterior root attachment point of the medial meniscus is essential. The purpose of this study is to determine the functional and radiological outcome of conservative therapy and meniscal repair for medial meniscal root tears. Prospective evaluations were performed on forty individuals who confirmed a diagnosis of Medial meniscus root tear (MMRT). Among the 40 patients, 20 underwent arthroscopic meniscal repair and 20 underwent conservative management and followed up a period of 2 years. Functional outcome between two groups was measured using Tegner Lysholm score and IKDC score. Radiological outcome was measured using X-rays (medial joint space width, joint space narrowing, K-L grade). Both group showed improvement in Lysholm score and IKDC. When comparing the clinical outcomes between both the groups, Group A showed significantly better outcome (P = 0.02). About 60% of patients in Group A and all patients in Group B showed K-L grade progression. Of the patients in Group A, 5% had significant K-L grade progression and 10% had severe joint space constriction. Of the patients in Group B, 80% had significant K-L grade progression and 25% had severe joint space constriction. Meniscal repair had considerably superior outcomes for radiologic parameters than conservative care (P < 0.01) when we examined the final results of Groups A and B. The MMRT repair group had better functional and radiological outcome than the conservative treatment group. Although treatment did not entirely stop the advancement of arthrosis, meniscal repair decreased the rate of arthritic changes when compared to the conservative group.

Transcriptional profiling sheds light on the fibrotic aspects of idiopathic subglottic tracheal stenosis.

Idiopathic subglottic stenosis (ISGS) is a rare fibrotic disease of the upper trachea with an unknown pathomechanism. It typically affects adult Caucasian female patients, leading to severe airway constrictions caused by progressive scar formation and inflammation with clinical symptoms of dyspnoea, stridor and potential changes to the voice. Endoscopic treatment frequently leads to recurrence, whereas surgical resection and reconstruction provides excellent long-term functional outcome. This study aimed to identify so far unrecognized pathologic aspects of ISGS using single cell RNA sequencing. Our scRNAseq analysis uncovered the cellular composition of the subglottic scar tissue, including the presence of a pathologic, profibrotic fibroblast subtype and the presence of Schwann cells in a profibrotic state. In addition, a pathology-associated increase of plasma cells was identified. Using extended bioinformatics analyses, we decoded pathology-associated changes of factors of the extracellular matrix. Our data identified ongoing fibrotic processes in ISGS and provide novel insights on the contribution of fibroblasts, Schwann cells and plasma cells to the pathogenesis of ISGS. This knowledge could impact the development of novel approaches for diagnosis and therapy of ISGS.

Development of KER-012, a modified ActRIIB ligand trap, for the treatment of pulmonary arterial hypertension

Abstract Background Pulmonary Arterial Hypertension (PAH) is a debilitating disorder characterized by elevated pulmonary vascular resistance (PVR) due to severe constriction obliteration of pulmonary vessels (Tielemans 2019). The pathology of PAH is driven by endothelial dysfunction and vascular remodeling that leads to increased wall thickening and resistance to blood flow. Dysregulated TGF-β, specifically SMAD signaling, is a key molecular defect in proliferative thickening of pulmonary arterioles in PAH leading to increased arterial pressure and compensatory right ventricular hypertrophy, ultimately resulting in decompensated right heart failure. Increased levels of activin A, a TGF-β superfamily ligand, have been found in PAH patients, and in the lungs of hypoxia-induced pulmonary hypertensive mice (Yndestad 2009). KER-012 is an investigational modified ActRIIB ligand trap designed to bind and inhibit activin A, activin B, GDF8 and GDF11 to maximally inhibit SMAD2/3 (pro proliferative), while permitting SMAD1/5/9 (anti-proliferative) signaling. This profile is expected to rebalance defective SMAD signaling in PAH and potentially delay or reverse disease progression. Aim To evaluate safety and tolerability of KER-012 in healthy post-menopausal women (PMW) and present the planned design of a Phase 2 trial in participants with PAH. Methods A two-part Phase 1 study has been conducted with KER-012 in healthy PMW. Participants received either placebo or a single dose of KER-012 ranging between 0.75 and 5.0 mg/kg in Part 1 or multiple doses between 0.75 and 4.5 mg/kg in Part 2 subcutaneously once every 4 weeks over a 12-week period. Safety, PK and biomarkers of activin target engagement were assessed. Results KER-012 was generally well tolerated at dose levels up to 5 mg/kg as a single dose and at dose levels up to 4.5 mg/kg administered Q4W for a total of 3 doses (Table 1). Maximal target engagement of KER-012, as demonstrated by changes in biomarkers of activin inhibition, namely follicle stimulating hormone (FSH) and bone specific alkaline phosphatase (BSAP), was observed in this study. As previous studies with activin receptor type II ligand traps have shown a potentially dose-limiting increase in erythropoiesis, changes in red blood cells (RBC) were closely monitored in this study. KER-012 did not elicit any changes in hemoglobin or RBC count in the Phase 1 study (Figure 1). Summary KER-012 was generally well tolerated in healthy participants. The observed biomarker changes are consistent with inhibition of activins, suggestive of a balance shift in favor of signaling via the anti-proliferative SMAD 1/5/9 pathway. Based on this mechanism, administration of KER-012 could potentially result in reverse vascular remodeling and clinical cardiopulmonary improvements in patients with PAH, without targeting erythropoietic pathways. Given this profile, KER-012 is being advanced for development in patients with PAH in an upcoming Ph2 clinical trial (Figure 2).

Elimination of CaMKIIδ Autophosphorylation by CRISPR-Cas9 Base Editing Improves Survival and Cardiac Function in Heart Failure in Mice.

Cardiovascular diseases are the main cause of worldwide morbidity and mortality, highlighting the need for new therapeutic strategies. Autophosphorylation and subsequent overactivation of the cardiac stress-responsive enzyme CaMKIIδ (Ca2+/calmodulin-dependent protein kinase IIδ) serves as a central driver of multiple cardiac disorders. To develop a comprehensive therapy for heart failure, we used CRISPR-Cas9 adenine base editing to ablate the autophosphorylation site of CaMKIIδ. We generated mice harboring a phospho-resistant CaMKIIδ mutation in the germline and subjected these mice to severe transverse aortic constriction, a model for heart failure. Cardiac function, transcriptional changes, apoptosis, and fibrosis were assessed by echocardiography, RNA sequencing, terminal deoxynucleotidyl transferase dUTP nick end labeling staining, and standard histology, respectively. Specificity toward CaMKIIδ gene editing was assessed using deep amplicon sequencing. Cellular Ca2+ homeostasis was analyzed using epifluorescence microscopy in Fura-2-loaded cardiomyocytes. Within 2 weeks after severe transverse aortic constriction surgery, 65% of all wild-type mice died, and the surviving mice showed dramatically impaired cardiac function. In contrast to wild-type mice, CaMKIIδ phospho-resistant gene-edited mice showed a mortality rate of only 11% and exhibited substantially improved cardiac function after severe transverse aortic constriction. Moreover, CaMKIIδ phospho-resistant mice were protected from heart failure-related aberrant changes in cardiac gene expression, myocardial apoptosis, and subsequent fibrosis, which were observed in wild-type mice after severe transverse aortic constriction. On the basis of identical mouse and human genome sequences encoding the autophosphorylation site of CaMKIIδ, we deployed the same editing strategy to modify this pathogenic site in human induced pluripotent stem cells. It is notable that we detected a >2000-fold increased specificity for editing of CaMKIIδ compared with other CaMKII isoforms, which is an important safety feature. While wild-type cardiomyocytes showed impaired Ca2+ transients and an increased frequency of arrhythmias after chronic β-adrenergic stress, CaMKIIδ-edited cardiomyocytes were protected from these adverse responses. Ablation of CaMKIIδ autophosphorylation by adenine base editing may offer a potential broad-based therapeutic concept for human cardiac disease.

Pulmonary endarterectomy in patients with occlusive isolated pulmonary vasculitis

BackgroundIsolated pulmonary vasculitis (IPV) is a rare, insidious, and localized inflammatory disease affecting the pulmonary arteries, often leading to severe luminal obstruction. The prognosis for patients with occlusive IPV is poor, and there is currently a lack of effective treatments. The objective of this study was to evaluate the performance of pulmonary endarterectomy (PEA) as a treatment for occlusive IPV.MethodsThis single-center retrospective analysis included patients who received PEA for occlusive IPV between January 2018 and June 2022. Clinical characteristics and hemodynamic parameters were evaluated at baseline and follow-up.ResultsAmong 114 consecutive patients who underwent PEA, occlusive IPV was identified in 7 patients. Two patients underwent bilateral PEA for the involvement of both pulmonary arteries. Patch angioplasty was performed to treat four severe constrictions. One patient died from residual pulmonary hypertension after limited PEA of a transmural vascular lesion. In addition, no obvious surgical complications were observed. Three months after PEA, a substantial relief in symptoms was achieved. Also, there is a decrease in the mean pulmonary artery pressure (median 33 [20–48] mmHg before versus median 21 [16–26] mmHg after; P < 0.018) and pulmonary arterial resistance (median 234 [131–843] dyn.s.cm−5 versus median 180 [150–372] dyn.s.cm−5; P = 0.310). Three patients experienced a relapse of restenosis of the treated arteries within a 6-month follow-up period, despite daily oral prednisolone administration. They were treated with balloon pulmonary angioplasty of both the main pulmonary arteries and branches.ConclusionsPEA is a valuable choice for treating occlusive IPV, with notable hemodynamic and clinical advantages. To increase long-term vascular patency, complete management should be optimized.

Influence of the transition section shape on the cavitation characteristics at the bottom outlet

Abstract The hydraulic characteristics of the lock chamber section in a bottom outlet are complex. Particularly, cavitation is a prominent problem when the flow in the tunnel transitions from pressurized to unpressurized conditions. As a countermeasure, sidewall contractions are often installed at the end of the pressurized section. In this paper, with numerical simulations and vacuum tank experiments, we analyzed the design parameters of several prototype projects and studied the flow properties and cavitation characteristics of the transition section. The four main factors that influence cavitation risks are the contraction ratio of the transition section, the top press slope, the length of the transition section, and the shape of the orifice. The study of a real-world project demonstrates that by implementing a severe constriction degree, the top press slope can be slowed down, and the pressurized transition section can be extended, thereby reducing cavitation risks and improving flow patterns. These research results provide a reference for the optimal design of hydraulic structures.

Retrospective computed tomography analysis of endotracheal tube constriction and mispositioning in cats and dogs

ObjectiveTo discover the prevalence of endotracheal tube (ETT) constriction and rostral and caudal mispositioning in anaesthetized cats and dogs, and to identify associated risk factors. Study designRetrospective analysis. AnimalsA total of 146 cats and 670 dogs. MethodsComputed tomography images of the head/neck/thorax from orotracheally intubated cats and dogs were visually assessed for constriction or mispositioning of the ETT. If constriction was present, measurements of the cross-sectional area (CSA) of the ETT lumen at constricted and un-constricted locations were compared. Location and cause of constriction were noted and the expected increase in resistance to gas flow was calculated. Animal information was collected from clinical records. Normality of continuous variables was assessed via the Shapiro–Wilk test. Chi-square tests examined associations between variables. Kendall’s tau-b test was performed between measured ETT size and degree of constriction. ResultsThe ETT extended rostrally beyond incisors in 52% of cases; the connector was within the oral cavity in 19% of cases. The ETT extended beyond the first rib in 25.5% of cases. The prevalence of ETT constriction was 22.7%. Median reduction in CSA was 7.68% (0.14–64.19%). Median increase in resistance assuming laminar and turbulent flow was 16.5% (0.3–680%) and 21% (0.3–1200%), respectively. The most common cause of constriction was the presence of a radiotherapy mouth gag. Significant associations existed between presence of constriction and rostral mispositioning, and caudal mispositioning and extreme brachycephaly. Increased severity of constriction was more likely in smaller ETT. Conclusions and clinical relevanceConstriction and mispositioning of ETT occurred very commonly in this population. Checking the ETT within the oral cavity for constriction and mispositioning is recommended. Radiotherapy mouth gags increase the risk of ETT compression. Smaller ETT are at greater risk of severe constriction. Brachycephalic dogs are at particular risk of caudal mispositioning.

The Party Wall: Redefining the Indications of Transcranial Approaches for Giant Pituitary Adenomas in Endoscopic Era.

The evolution of endoscopic trans-sphenoidal surgery raises the question of the role of transcranial surgery for pituitary tumors, particularly with the effectiveness of adjunct irradiation. This narrative review aims to redefine the current indications for the transcranial approaches for giant pituitary adenomas in the endoscopic era. A critical appraisal of the personal series of the senior author (O.A.-M.) was performed to characterize the patient factors and the tumor's pathological anatomy features that endorse a cranial approach. Traditional indications for transcranial approaches include the absent pneumatization of the sphenoid sinus; kissing/ectatic internal carotid arteries; reduced dimensions of the sella; lateral invasion of the cavernous sinus lateral to the carotid artery; dumbbell-shaped tumors caused by severe diaphragm constriction; fibrous/calcified tumor consistency; wide supra-, para-, and retrosellar extension; arterial encasement; brain invasion; coexisting cerebral aneurysms; and separate coexisting pathologies of the sphenoid sinus, especially infections. Residual/recurrent tumors and postoperative pituitary apoplexy after trans-sphenoidal surgery require individualized considerations. Transcranial approaches still have a critical role in giant and complex pituitary adenomas with wide intracranial extension, brain parenchymal involvement, and the encasement of neurovascular structures.

Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee.

Mutations in the RPE65 gene, associated with Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa, gained growing attention since gene therapy for patients with RPE65-associated retinal dystrophy is available in clinical practice. RPE65 gene accounts for a very small proportion of patients with inherited retinal degeneration, especially Asian patients. Because RPE65-associated retinal dystrophy shares common clinical characteristics, such as early-onset severe nyctalopia, nystagmus, low vision, and progressive visual field constriction, with retinitis pigmentosa by other genetic mutations, appropriate genetic testing is essential to make a correct diagnosis. Also, fundus abnormalities can be minimal in early childhood, and the phenotype is highly variable depending on the type of mutations in RPE65-associated retinal dystrophy, which makes a diagnostic difficulty. The aim of this paper is to review the epidemiology of RPE65-associated retinal dystrophy, mutation spectrum, genetic diagnosis, clinical characteristics, and voretigene neparvovec, a gene therapy product for the treatment of RPE65-related retinal dystrophy.

Variations in Inflammatory Cells and IL-6 in Long-Distance Runners Susceptible to Exercise-Induced Bronchospasm and Previously Treated with Salbutamol

Background: Exercise-Induced Bronchospasm (EIB) is an inflammatory condition characterized by severe airway constriction following the mobilization of inflammatory cells and interleukin-6 (IL-6). When severe, EIB can require the use of pressurized salbutamol to treat athletes. This study investigated the nature of the systemic changes in inflammatory cells and post-exercise IL-6 concentrations after salbutamol treatment in EIB-susceptible distance runners. Materials and Methods: This was an experimental study that enrolled 12 long-distance runners. In Session A, the participants completed a treadmill exercise test, and those who had a maximum expiratory volume per second (FEV1) that was decreased by at least 10% compared to their base value were placed in the EIB-susceptible group (EIB+) (n = 6). Those whose FEV1 did not meet this criterion were placed in the nonresponsive (EIB?) group (n = 6). Before the Session B exercise, athletes in the BIE+ group inhaled two puffs of salbutamol (EIB+ Salb), while their EIB? counterparts received no treatment. Spirometry was performed before and after the exercise using a Spirobank G portable spirometer. Blood samples were taken before, immediately after and 2 hours after the stress test. Results: The mean post-exercise FEV1 values were not significantly different (p > 0.05) between the EIB+ Salb group and the EIB? group. The systemic changes in inflammatory cells and IL-6 concentrations in the EIB+ runners after salbutamol treatment were similar to those observed in their EIB? counterparts. Conclusion: Salbutamol pretreatment improved the systemic immune status of EIB-susceptible athletes.

Severe asthma with fungal sensitization is associated with worse small airway dysfunction but similar symptom control

Severe asthma with fungal sensitization is associated with worse small airway dysfunction but similar symptom control

Retinal involvement in mitochondrial disease

AbstractRetinal involvement in mitochondrial disease is a variable feature of mitochondrial dysfunction. The retinal pigment epithelium and photoreceptor layers can both be affected. It manifests with signs ranging from asymptomatic peripheral salt‐and‐pepper retinopathy to classic bone‐spicule pigmentary changes. The consequences can be progressive mild or severe visual field constriction and central visual acuity loss. The pathophysiological mechanisms involved in retinal dysfunction in mitochondrial disease are still being elucidated and may include a range of metabolic and bioenergetic defects.Mitochondrial conditions affecting the eye that display prominent outer retinal involvement include.(a) mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes (MELAS) secondary to the m.3243A &gt; G mtDNA mutation in MT‐TL1,(b) neuropathy, ataxia and retinitis pigmentosa (NARP) secondary to the m.8993 T &gt; G mtDNA mutation in MT‐ATP6,(c) chronic progressive external ophthalmoplegia (CPEO), in particular the Kearns‐Sayre syndrome (KSS) secondary to single large‐scale mtDNA deletions, and.(d) some newer entities, such as optic neuropathy and pigmentary retinopathy seen in patients with mutations in the gene SSBP1.The features and diagnostic pathway for these conditions will be illustrated and discussed.

TAMPONADE WAS ONLY A FACADE: CANCER WAS THE REAL ANSWER

TAMPONADE WAS ONLY A FACADE: CANCER WAS THE REAL ANSWER

Surgical considerations for syndactyly of the hand in harlequin ichthyosis: a 5-year experience of sequential surgical treatment in a single patient

Harlequin ichthyosis (HI) is a rare congenital disease that primarily affects the skin. Its complications include syndactyly, which can cause severe constriction. Surgical release is thought to be helpful, but the details remain unclear due to a lack of data. We share our 5-year experience of a patient with HI with successful outcomes from five syndactyly release operations involving division, local flap interposition, and full-thickness skin grafts. A visible decrease in the ulnar deviation of the metacarpophalangeal joints and a wider range of motion were noted. There were no complications, except for one case of donor site dehiscence that was resolved after minor revision. The surgical design must conform to the anatomical structure, as it can be easily mistaken due to masking of the skin. A suitable donor site is a flat, non-folding surface, such as the lateral thigh.