Restrictive Disorders Research Articles

The Role of the U5 snRNP in Genetic Disorders and Cancer.

Pre-mRNA splicing is performed by the spliceosome, a dynamic macromolecular complex consisting of five small uridine-rich ribonucleoprotein complexes (the U1, U2, U4, U5, and U6 snRNPs) and numerous auxiliary splicing factors. A plethora of human disorders are caused by genetic variants affecting the function and/or expression of splicing factors, including the core snRNP proteins. Variants in the genes encoding proteins of the U5 snRNP cause two distinct and tissue-specific human disease phenotypes – variants in PRPF6, PRPF8, and SNRP200 are associated with retinitis pigmentosa (RP), while variants in EFTUD2 and TXNL4A cause the craniofacial disorders mandibulofacial dysostosis Guion-Almeida type (MFDGA) and Burn-McKeown syndrome (BMKS), respectively. Furthermore, recurrent somatic mutations or changes in the expression levels of a number of U5 snRNP proteins (PRPF6, PRPF8, EFTUD2, DDX23, and SNRNP40) have been associated with human cancers. How and why variants in ubiquitously expressed spliceosome proteins required for pre-mRNA splicing in all human cells result in tissue-restricted disease phenotypes is not clear. Additionally, why variants in different, yet interacting, proteins making up the same core spliceosome snRNP result in completely distinct disease outcomes – RP, craniofacial defects or cancer – is unclear. In this review, we define the roles of different U5 snRNP proteins in RP, craniofacial disorders and cancer, including how disease-associated genetic variants affect pre-mRNA splicing and the proposed disease mechanisms. We then propose potential hypotheses for how U5 snRNP variants cause tissue specificity resulting in the restricted and distinct human disorders.

A belief-based parenting behavior model for promoting family's ability to care for children with avoidant restrictive food intake disorder (ARFID) in Indonesia.

Background: Family’s ability to care for children with avoidant restrictive food intake disorder (ARFID) is a central indicator in preventing the children from worse nutritional disorders. Environmental factor, child factor, caregiving behavioral systems, and beliefs can improve the family’s ability to care for children. The aim of this research was to analyze the effect of environmental factor, child factor, caregiving behavioral systems, and beliefs on the family’s ability to care for children with ARFID.Design and Methods: This cross-sectional research was carried out on 245 families with children suffering from ARFID in Malang Regency, in the working area of the Health Office of Malang Regency. The population of this research was families with children suffering from ARFID within the working area of the Health Office of Malang Regency. The research sample size was computed using the rule of thumb in structural equation modeling (SEM), the sample size used was 245.Results: Results showed that the family’s ability to care for children with ARFID was highly influenced by the caregiver’s belief (t = 21.796; β = 0.713). Caregiver’s belief became a dominant factor in the promotion of the family’s ability to care for children with ARFID. A caregiver’s belief was influenced by his/her behavior.Conclusions: It was concluded that the caregiver’s belief serves as a primary factor in the promotion of the family’s ability to care for children with ARFID. A caregiver’s behavior holds a prominent role in influencing his/her belief in providing care for children suffering from ARFID.Significance for public healthThe results of this research will be useful for the fostering of family’s ability to provide care for children with ARFID. Improved family’s ability to provide care for children with ARFID will prevent nutritional disorders in children like stunting and wasting.

Changes in the ventilation function of the lungs during the formation of chronic obstructive pulmonary disease and its combination with lung cancer

Aim. To study the ventilation function of the lungs in patients with varying degrees of severity of chronic obstructive pulmonary disease (COPD) and in patients with COPD combined with lung cancer (LC), as well as to establish the features of its disorders using spirography and body plethysmography. Materials and methods . A clinical and functional study of 57 individuals was carried out with 10 healthy patients (control group), 30 patients with COPD and 17 patients in whom LC was combined with COPD using the Masterlab Pro diagnostic complex (Erich Jaeger, Germany). Results . In patients with early COPD, a decrease in MEF 75 (a ventilation parameter characterizing small airway patency) is the most informative. With the progression of bronchial obstruction, both restrictive and obstructive disorders, characterized by a decrease in FEV 1 , VC, a change in the structure of the total lung capacity in the form of an increase in the RV/TLC ratio such as an increase in the RV/TLC ratio and an increase in bronchial resistance were recorded. In patients with LC and mild COPD, pulmonary volumes, capacities, flow-volume loop and bronchial resistance parameters did not differ from patients with COPD with a similar bronchial obstruction. In patients with LC and more severe COPD, in contrast to patients suffering from a similar severity of COPD, a decrease in the patency of large, medium and small diameter bronchi (PEF, MEF 25 , MEF 50 , MEF 75 ) was detected, which indicated development of generalized bronchial obstruction. Conclusion . Modern diagnostics of pulmonary ventilation disorders in patients with LC and COPD should be aimed at identifying the disease, and drug therapy should target maximum leveling of reversible components of bronchial obstruction in order to increase the functional reserve of the respiratory system and reduce the risk of postoperative complications caused by COPD.

ВЕНТИЛЯЦІЙНІ ТА ДИФУЗІЙНІ ПОРУШЕННЯ У ОСІБ, ЩО ПЕРЕНЕСЛИ НЕГОСПІТАЛЬНУ ПНЕВМОНІЮ, АСОЦІЙОВАНУ З КОРОНАВІРУСНОЮ ХВОРОБОЮ (COVID-19). МОЖЛИВОСТІ ІНГАЛЯЦІЙНОЇ ТЕРАПІЇ

VENTILATION AND DIFFUSIONAL DISORDERS IN PERSONS AFTER COMMUNITYACQUIRED PNEUMONIA, ASSOCIATED WITH CORONAVIRUS DISEASE (COVID-19). POSSIBILITIES OF INHALATION THERAPY T. O. Pertseva, L. I. Konopkina, K. O. Bielosludtseva, O. O. Shchudro, K. V. Fuhol Dnipro State Medical University, Dnipro, Ukraine Abstract. The aim of the study was to evaluate the results of our own observations of persons after communityacquired pneumonia associated with coronavirus disease (COVID-19), to determine options of functional disorders that may be observed in the post COVID-19 period, and to justify the possibility of inhalation therapy in patients with certain clinical symptoms in the post COVID-19 period, and demonstrate its effectiveness. Materials and methods. The results of our own observations are presented in the form of descriptions of ten clinical cases of functional state of the respiratory system in persons after community-acquired pneumonia associated with COVID-19. Conclusions. At the end of the acute period of COVID-19, the ventilatory function of the lungs in patients may be different: normal, with restrictive disorders (varying degrees of severity), with obstructive disorders (usually mild), with mixed disorders (without prevalence of certain types of changes, or with prevalence, most often, restrictive disorders). In this case, impaired diffusion capacity of the lungs is an extremely common phenomenon. Most likely, in COVID-19 in a certain category of patients, not only interstitial lung tissue but also bronchial tree tissue (mucous membrane, submucosal layer, muscles, vessels) may be involved in the pathological process. It is possible that this process may be of autoimmune origin. If there are bronchoobstructive disorders in the post COVID-19 period, patients should be prescribed bronchodilator therapy; long-acting β2 -agonists, in particular formoterol, may be the drugs of choice. If there is a long-term recovery of lung tissue structure, given that coronavirus disease is an autoimmune disease, the use of inhaled corticosteroids should be considered individually. The combined drug Bufomix Easyhailer® , prescribed according to the indications, has shown good efficacy and safety in the management of the patient in the post COVID-19 period. Key words: coronavirus disease; COVID-19; pneumonia, associated with COVID-19; post COVID-19 period; spirometry; diffusion lung capacity of carbon monoxide; DLCO.

A Case Study of Acute Onset Obsessive-Compulsive Symptoms in a Pediatric Patient

This is a case of a 10 year old boy who was seen in a clinic that specializes in childhood postinfectious encephalopathy (CPAE). The patient presented with new onset of obsessive-compulsive behaviors, severe separation anxiety and progressive eating restriction which led to dehydration and hospitalization. His mother reported that prior to onset of symptoms two months earlier, he was a happy, playful and engaging child who enjoyed friendships, family, school and karate. Differential diagnosis in such cases focuses on identifying the most likely primary underlying cause for the presenting symptoms. This is especially challenging because there are many potential etiologies including a variety of behavioral and environmental causes. Based on patient examination, laboratory findings and psychometric tests, diagnoses considered by the clinical team included new onset or exacerbation of previously not identified obsessive compulsive disorder (OCD) or anxiety, new onset of tic disorder, new onset of eating disorder, Pediatric Autoimmune Neuropsychiatric Disorders Associated with Group A Streptococcal infection (PANDAS) and Pediatric Acute-onset Neuropsychiatric Syndrome (PANS). The presentation of OCD with an avoidant restrictive food intake disorder in combination with the acute onset of symptoms and the lack of documented strep infection led the team to a PANS diagnosis. When treated with a combination of anti-inflammatory and antibiotic medications, the patient demonstrated rapid improvement with a return to baseline functioning with resolution of OCD symptoms, separation anxiety, emotional lability, sleep disturbances and nocturnal enuresis. At 8 month follow up, school performance was reported to have returned to baseline.

Характеристика одышки у больных прогрессирующим фибротическим фенотипом интерстициальных заболеваний легких, ассоциированных с ишемической болезнью сердца

Study Objective: To compare the quantitative aspects of shortness of breath in patients with fibrous interstitial lung disease (ILD) associated with cardio ischemia; to compare analysis results of the data obtained during functional and instrumental examinations. Study Design: Open comparative study in parallel groups. Materials and Methods. The study included 47 patients with fibrous ILD: 8 patients had idiopathic pulmonary fibrosis; 25 patients had chronic hypersensitive pneumonitis, and 14 patients had fibrous non-specific interstitial pneumonia. The patients were divided into two groups: study group of 24 patients with fibrous ILD associated with cardio ischemia, and 23 controls with fibrous ILD without cardio ischemia. We analysed clinical symptoms, instrumental examination results, changes in patients’ functional status with and without cardiac pathology. Study Results. In patients with fibrous ILD and cardio ischemia, respiratory symptoms were more intensive than in patients without cardio ischemia. Patients with fibrous ILD and cardio ischemia experienced worsening of their shortness of breath statistically earlier (in 3.15 days) vs patients with isolated fibrous ILD, who had shortness of breath in 7.29 days (p < 0.05). Patients with fibrous ILD and cardio ischemia demonstrated mixed functional changes: restrictive (reduced lung capacity and FVRC) and obstructive disorders (reduced FEV1 and instantaneous exhalation rate, МСВ25); statistically significant reduction in diffusing lung capacity, p < 0.05. A shorter 6-minute walking distance, more marked desaturation (SрO2 reduction by 8.31% in the study group and by 2.12% in controls, p < 0.05), higher scores of Borg Dyspnoea Scale and CRP scale (Clinical, Radiographic, and Physiologic scoring system) demonstrated statistically reduced tolerance to physical exercises in patients with cardio ischemia. CT scans did not reveal any differences in the intensity of interstitial changes in patients of both groups; “ground glass” areas were significantly more intense in patients with cardio ischemia, p < 0.05. Pulmonary hypertension and structural changes in right compartments of heart were recorded in patients in both groups; however, left ventricular hypertrophy and dysfunction were noted only in patients with cardio ischemia. Conclusion. In patients with fibrous ILD associated with cardio ischemia, intensification of shortness of breath can be a sign of a progressive respiratory disease or a new event: coronary event, atrial fibrillation attack, cardiac failure, chronic cor pulmonale. Assessment of the functional status using Borg Dyspnoea Scale, CRP, Medical Research Council Scale is a tool to identify the reasons of dyspnoea in primary care settings, to develop an algorithm for instrumental differential diagnosis of shortness of breath. Keywords: progressive fibrous interstitial lung diseases, quantification of shortness of breath, cardio ischemia.

A rare association of congenital fibrosis of extraocular muscles with keratoconus and bilateral sensorineural hearing loss: A co-incidence or some syndrome?

Congenital fibrosis of extraocular muscles (CFEOM) is an inherited restrictive ocular motility disorder characterized by unilateral or bilateral horizontal and/or vertical gaze impairment with ptosis. Keratoconus is a bilateral asymmetrical corneal ecstatic disease with multifactorial etiology, including complex interaction of both genetic and environmental factors. We report a case of a 29-year-old female who presented with chief complaints of bilateral diminution of vision and drooping of eyelids since early childhood with a history of seizures for 1 year. Visual acuity at presentation was hand movement close to face with accurate projection of rays in both the eyes. Contrast-enhanced magnetic resonance imaging of the brain and orbit revealed partially empty sella, neurocysticercosis, and bilateral atrophy of extraocular muscles. On detailed examination, she was found to have CFEOM type 1A (CFEOM1A, autosomal dominant inheritance) with bilateral advanced keratoconus, bilateral sensorineural hearing loss, bilateral presenile cataract, and neurocysticercosis. The association of CFEOM1A, keratoconus, and sensorineural hearing loss is not reported in the literature to date. Whether this association is co-incidental or part of some new syndrome needs to be evaluated further.

Non-invasive ventilation of the lungs in neuromuscular diseases

To describe a clinical case and to analyze our own practice of using NIVL in a myasthenia (MG) gravis patient. Since 2018 in the Republican Research and Clinical Center of Neurology and Neurosurgery NIVL has been performed in 29 patients (21 amyotrophic lateral sclerosis patients and 8 MG patients). The research was carried out using the portable polysomnograph Polymate YH-1000C (BMC, China) and in the Sleep Laboratory of the Republican Clinical Medical Center of the Presidential Administration of the Republic of Belarus using SOMNOlab V 2.19 (Weinmann, Germany). Respiratory support was provided by the Ventimotion 2 device (Weinmann, Germany). The article presents our own experience of using NIVL in MG patient and profound description of the diagnostic and therapeutic complex. The development of chronic respiratory failure in NMD is based on a violation of the ventilation-perfusion ratio in the alveoli as a result of the development of hypoventilation due to restrictive disorders (namely, due to weakness of the respiratory muscles). Compensatory mechanisms eventually lead to an increase in the work on the affected respiratory muscles that leads to the formation of a vicious circle. The use of NIVL provides adequate ventilation of the lungs providing rest for the respiratory muscles. Like any other medical intervention NIVL has indications and contraindications, advantages and disadvantages that are described in this article. The use of NIVL helps to reduce the risk and frequency of respiratory complications, the number and duration of hospitalizations that significantly affects the prognosis and course of NMD as well as improves the quality of life and the level of adaptation of patients.

Избегающее ограничительное расстройство, связанное с приемом пищи – новая диагностическая категория расстройства пищевого поведения в DSM-V (аналитический обзор)

Избегающее ограничительное расстройство, связанное с приемом пищи – новая диагностическая категория расстройства пищевого поведения в DSM-V (аналитический обзор)

Pancytopenia Associated with Avoidant Restrictive Food Intake Disorder: A Case Report

Avoidant restrictive food intake disorder (ARFID) is one of the least clearly understood feeding and eating disorders, and there are no guidelines for its treatment. Patients with ARFID often present comorbid psychiatric disorders. The feeding and eating disorders can present with pancytopenia associated with poor nutritional status. Our aim is to present a clinical case of pancytopenia in a patient with ARFID. The case concerns a 20‑year‑old man hospitalized with pancytopenia. It was diagnosed ARFID and comorbid generalized anxiety disorder. Cognitive behavior therapy was implemented, and after six months there was an improvement in the feeding behavior, with greater diversity of ingested food and remission of pancytopenia. This is the first documented case of ARFID with pancytopenia. A multidisciplinary approach is crucial not only for the correct diagnosis, but also for the effective treatment with relapse prevention.

Consequences of cement dust exposure on pulmonary function in cement factory workers.

Several health conditions are associated with cement dust exposure; obstructive and restrictive lung disorders are the most common consequences. The aims of this study were to assess the pulmonary function of cement factory workers and to determine the distribution of respiratory consequences resulting from dust inhalation. A cross-sectional study with convenience sampling was undertaken from December2019 to March2020. A total of 97 (response rate, 92.4%) nonsmoking male cement workers were recruited and compared with 97 apparently healthy volunteers. A spirometer was used to measure forced vital capacity (FVC), forced expiratory volume in one second (FEV1 ), and their ratio (FEV1 /FVC). The measured parameters were interpreted according to American Thoracic Society/European Respiratory Society guidelines. Significant reductions were observed in pulmonary function parameters of cement factory workers compared to controls (FVC 4.03vs. 4.65 L in controls; FEV1 3.06vs. 3.95 L in controls; p < 0.001 for both comparisons). A significant variation was observed in the prevalence of spirometric patterns between the two participating groups. Ninety (92.8%) controls had normal respiratory function with no defects, compared with only 25 (25.8%) of the cement workers. Restriction was the most common respiratory problem, with a greater prevalence in the cement workers (44 [45.4%]) compared to six (6.2%) controls. Cement factory workers showed decreased lung function and abnormal spirometric patterns which we attribute to dust inhalation. These workers should have periodic medical examinations and regular rotations through different factory departments to minimize the pulmonary hazards of cement dust.

Rheumatoid arthritis-associated lung disease in black Africans: Descriptive study of 28 cases in Lomé.

Background Several studies have shown that lung disease is a common extra-articular manifestation of rheumatoid arthritis (RA). Objectives To describe the lung manifestations in the RA population in Lomé, Togo. Methods The study was conducted from October 2018 to July 2019 at the pulmonology unit of the Sylvanus Olympio University teaching hospital, in collaboration with rheumatology centres in Lomé, Togo. Patients meeting the American College of Rheumatology criteria for RA were prospectively enrolled. They underwent clinical examination, spirometry, a 6-minute walk test (6MWT) and a chest X-ray (CXR). All information collected and surveys gathered were subjected to statistical analysis. Results Twenty-four out of 28 patients were women (85.7%). The mean (standard deviation (SD)) duration of illness was 4.1 (2.8) years. Thirteen patients out of 28 (46.4%) had respiratory symptoms. On CXR, interstitial lung disease was the only pleuropulmonary lesion (17.8%). Spirometry was abnormal in 25% of cases, with a predominance of restrictive ventilatory disorder (21.4%). The 6MWT was abnormal in 25% of patients. A total of 20 patients (71.4%) had at least one lung manifestation. We noted that there were significantly more patients with respiratory symptoms and no radiographical abnormalities than those with both respiratory symptoms and radiographical abnormalities (p=0.013). Conclusion Lung changes affect a significant proportion of RA patients in Lomé. Studies conducted with appropriate respiratory investigations and combining cardiovascular explorations will bring us closer to an understanding of the effects of RA-associated lung disease.

Modified Y Splitting of Lateral Rectus in Treatment of Abnormal Vertical Eye Movements Combined with Globe Retraction in Duane Retraction Syndrome

Duane retraction syndrome is the most frequently seen restrictive ocular motility disorders. It is clinically presented with limitation of horizontal movement, variable amounts of upshoots or downshoots and globe retraction combined with narrowing of the palpebral aperture on attempted adduction. An 8-year-old patient presented with severe restriction of abduction, reciprocal upshots or downshoots, and globe retraction combined with the palpebral fissure narrowing of on adduction. After the modified Y splitting of LR and recession of both horizontal rectus operation, all cosmetically disfiguring clinical features disappeared. In this case report modified Y splitting procedure and its long-term efficacy is presented.

Heart Failure Results in Inspiratory Muscle Dysfunction Irrespective of Left Ventricular Ejection Fraction

Background: Exercise intolerance in heart failure with reduced ejection fraction (HFrEF) or heart failure with preserved ejection fraction (HFpEF) results from both cardiac dysfunction and skeletal muscle weakness. Respiratory muscle dysfunction with restrictive ventilation disorder may be present irrespective of left ventricular ejection fraction and might be mediated by circulating pro-inflammatory cytokines. Objective: To determine lung and respiratory muscle function in patients with HFrEF/HFpEF and to determine its associations with exercise intolerance and markers of systemic inflammation. Methods: Adult patients with HFrEF (n = 22, 19 male, 61 ± 14 years) and HFpEF (n = 8, 7 male, 68 ± 8 years) and 19 matched healthy control subjects underwent spirometry, measurement of maximum mouth occlusion pressures, diaphragm ultrasound, and recording of transdiaphragmatic and gastric pressures following magnetic stimulation of the phrenic nerves and the lower thoracic nerve roots. New York Heart Association (NYHA) class and 6-min walking distance (6MWD) were used to quantify exercise intolerance. Levels of circulating interleukin 6 (IL-6) and tumor necrosis factor-α (TNF-α) were measured using ELISAs. Results: Compared with controls, both patient groups showed lower forced vital capacity (FVC) (p < 0.05), maximum inspiratory pressure (PI_max), maximum expiratory pressure (PE_max) (p < 0.05), diaphragm thickening ratio (p = 0.01), and diaphragm strength (twitch transdiaphragmatic pressure in response to supramaximal cervical magnetic phrenic nerve stimulation) (p = 0.01). In patients with HFrEF, NYHA class and 6MWD were both inversely correlated with FVC, PI_max, and PE_max. In those with HFpEF, there was an inverse correlation between amino terminal pro B-type natriuretic peptide levels and FVC (r = −0.77, p = 0.04). In all HF patients, IL-6 and TNF-α were statistically related to FVC. Conclusions: Irrespective of left ventricular ejection fraction, HF is associated with respiratory muscle dysfunction, which is associated with increased levels of circulating IL-6 and TNF-α.

Cardiorespiratory performance capacity and airway microbiome in patients following primary repair of esophageal atresia

BackgroundPatients following repair of an esophageal atresia (EA) or tracheoesophageal fistula (TEF) carry an increased risk of long-term cardiopulmonary malaise. The role of the airway microbiome in EA/TEF patients remains unclear.MethodsAll EA/TEF patients treated between 1980 and 2010 were invited to a prospective clinical examination, spirometry, and spiroergometry. The airway microbiome was determined from deep induced sputum by 16 S rRNA gene sequencing. The results were compared to a healthy age- and sex-matched control group.ResultsNineteen EA/TEF patients with a mean age of 24.7 ± 7 years and 19 age- and sex-matched controls were included. EA/TEF patients showed a significantly lower muscle mass, lower maximum vital capacity (VCmax), and higher rates of restrictive ventilation disorders. Spiroergometry revealed a significantly lower relative performance capacity and lower peak VO2 in EA/TEF patients. Alpha- and beta-diversity of the airway microbiome did not differ significantly between the two groups. Linear discriminant effect size analysis revealed significantly enriched species of Prevotella_uncultured, Streptococcus_anginosus, Prevotella_7_Prevotella_enoeca, and Mogibacterium_timidum.ConclusionEA/TEF patients frequently suffer from restrictive ventilation disorders and impaired cardiopulmonary function associated with minor alterations of the airway microbiome. Long-term examinations of EA/TEF patients seem to be necessary in order to detect impaired cardiopulmonary function.ImpactThe key messages of the present study are a significantly decreased VCmax and exercise performance, as well as airway microbiome differences in EA/TEF patients.This study is the first to present parameters of lung function and exercise performance in combination with airway microbiome analysis with a mean follow-up of 24 years in EA/TEF patients.Prospective, long-term studies are needed to unravel possible interactions between alterations of the airway microbiome and impaired pulmonary function in EA/TEF patients.

Square wave manoeuvre for apogeotropic variant of horizontal canal benign paroxysmal positional vertigo in neck restricted patients

ObjectiveWe aimed to describe the clinical features of the apogeotropic variant of horizontal canal benign paroxysmal positional vertigo (HC BPPV-AG) in a cluster of patients with restrictive neck movement disorders and a new therapeutic manoeuvre for its management. MethodsIn a retrospective review of cases from an ambulatory tertiary referral center, patients with HC BPPV-AG in combination with neck movement restriction that prevented any classical manual repositioning procedure or who were refractory to canalith repositioning manoeuvres, were treated with a new manoeuvre comprised of sequential square-wave pattern of head and body supine rotations while nystagmus was being monitored, until either an apogeotropic to geotropic conversion or resolution of the nystagmus was observed. ResultsFifteen patients were studied. All but one [14/15 cases] showed a positive therapeutic response to the repositioning procedure in a single session. In two cases, a direct relief of vertigo and elimination of nystagmus was observed without an intermediate geotropic phase. Although in three patients the affected ear was not initially identified, it was ultimately identified and successfully treated by the square wave manoeuvre in all of them. ConclusionsThe square-wave manoeuvre is an alternative for HC BPPV-AG treatment in either cases with neck restriction, where the affected side is not well identified at the bedside or when other manoeuvres fail to resolve the HC BPPV-AG.

Biomechanical Impacts of Forward Head Posture on the Respiratory Function

Introduction: Forward head posture (FHP) is a very common problem among the working population. Being one of the most subconscious function in humans, respiratory function utilizes both the diaphragmand external intercostal muscles for quiet breathing. However during labored breathing, many other muscles will be recruited, and mostly these muscles have attachments in the cervical, thoracic ribcage,and even lumbar vertebrae. By the nature of attachments of these muscles on the cervical vertebra and thoracic cage, it is then plausible that FHP would affect the respiratory function.&#x0D; Methods: Thorough searches were done through international journals for the last ten years regarding the topic of FHP and its impacts to the respiratory biomechanics.&#x0D; Discussion: Previous studies have reported how prolonged FHP will result in kyphotic posture, reducing the mobility of ribcage, and modifies all respiratory muscular attachments such as sternocleidomastoids, intercostals, and to a certain extent, the diaphragm. All these result in a restrictive lung disorder, signified by reducing spirometry values, such as Forced Vital Capacity, Sniff Nasal Inspiratory Pressure, and Peak Flow Rate.&#x0D; Conclusion: Forward head posture disturb the respiratory biomechanics.

ASSOCIATION OF DONOR ALLOCATION SEQUENCE WITH OUTCOMES AFTER LUNG TRANSPLANTATION

SESSION TITLE: Transplantation Posters SESSION TYPE: Original Investigation Posters PRESENTED ON: October 18-21, 2020 PURPOSE: There is limited data regarding the association of donor allocation sequence number with early complications such as primary graft dysfunction (PGD) and survival after lung transplantation (LT). METHODS: We included 152 consecutive patients who underwent LT over a two-year period (11/2014-12/2016; mean age 56.8±13.2 years; M:F 93:59). The data regarding the allocation characteristics as well as graft survival were obtained directly from the United Network for Organ Sharing (UNOS) database. This data was merged with the institutional recipient database. Recipient data included baseline characteristics, peri-operative and post-operative course, complications and hospital outcomes. Primary graft dysfunction was analyzed as the primary outcome variable whereas the hospital length of stay and survival at one, and three-year post transplant were secondary outcome variables. RESULTS: The most common diagnostic group was restrictive lung diseases (n=81, 52.2%) with a mean lung allocation score (LAS) of 44.8±15 and majority underwent bilateral LT (n=98). The median allocation sequence was 4.5 for the study group (IQR 2-13). The study group was divided into patients who were transplanted at sequence #1 (n=29) vs those transplanted with organs accepted at lower allocation sequence. Patients with higher mean LAS (56.4±19.5 vs 42.1±12.4, p<0.001), restrictive disorders as the transplant indication (72% vs 48.7%, p=0.03), hospitalized at the time of LT (28% vs 9%, p=0.06) and bridged to LT using ECMO (21% vs 3%, p=0.001) were significantly more likely to be transplanted at sequence #1. Despite being sicker, recipients of allocation sequence #1 had significantly lower incidence of PGD 2 or 3 at 0 hours (24%, vs 61%, p<0.001; mean PF ratio: 357±81 vs 273±107, p<0.001) and 72 hours (14% vs 28%, p=0.15 mean PF ratio: 303±147 vs 198±167, p=0.002). Although, the recipients of allocation at sequence #1 experienced equivalent hospital survival, their survival trended lower at one-year and three-year follow up (p=NS). CONCLUSIONS: While patients transplanted at allocation sequence #1 tend to be sicker, they have better oxygenation during the first 72 hours after LT and lower risk of PGD. Nonetheless, a higher donor allocation sequence is not associated with superior one-year or three-year survival. CLINICAL IMPLICATIONS: By virtue of being prioritized for LT, sicker recipients may be transplanted with better quality donor lungs. While this allocation strategy may be successful in reducing early complications, it fails to improve post-LT survival. DISCLOSURES: My spouse/partner as a Employee relationship with Abbott Labs Please note: $20001 - $100000 Added 06/05/2020 by Amit Banga, source=Web Response, value=Salary No relevant relationships by SRINIVAS Bollineni, source=Web Response No relevant relationships by John Joerns, source=Web Response No relevant relationships by Vaidehi Kaza, source=Web Response No relevant relationships by Adrian Lawrence, source=Admin input No relevant relationships by Manish Mohanka, source=Web Response No relevant relationships by John Murala, source=Web Response No relevant relationships by Matthias Peltz, source=Web Response No relevant relationships by Lauren Shaffer, source=Web Response No relevant relationships by Fernando Torres, source=Web Response No relevant relationships by Michael Wait, source=Web Response

Disorders of cardiorespiratory coupling in hypercapnic respiratory test and moderate physical exercise in patients with pulmonological pathology

Relevance.The comprehensive assessment of cardiorespiratory coupling (CRC) for the diagnosis of functional adaptation in pulmonological patients is presented.The objective of the studywas to test the complex criteria of CRC for objective differential diagnosis of individual adaptive reactions of pulmonological patients.Methods and materials. 30 volunteers without verified pathology and 31 patients with restrictive and obstructive disorders were examined. All subjects underwent physical examination with traditional routine method using spiroarteriocardiorhythmography (SACR) at rest and during performing functional tests with hypercapnia and moderate physical exercise.Results. We proposed the methodology of integrated assessment of multicomponent system of CRC, which increases the diagnostic precision of SACR in the tasks of predicting the adaptive defects of the organism at different pulmonary syndromes.Conclusion. Breathing with a fixed frequency normalizes the regulation of CRC, both in healthy and pulmonological patients. Moderate physical activity (80 W) modifies the indicators of CRC in pulmonological patients in comparison with the control group statistically due to disorders of the heart rate and circulation. During moderate physical activity, stroke volume (SV) statistically decreases in patients differently: SV were significantly lower in the group with obstructive disorders than in the group with non-obstructive disorders.

Merosin-deficient muscular dystrophy: pathogenesis, clinical manifestations and therapeutic strategies

Merosin-deficient muscular dystrophy is the most common form of congenital muscular dystrophies (СMD), characterized by genetic heterogeneity and a severe course in most cases. CMD pathogenesis is associated with a partial or complete absence of laminin 2 chains in the basal membrane of muscle fiber caused by a mutation in theLAMA2gene. The clinical manifestations of LAMA2-associated muscular dystrophy vary from severe СMD (СMD 1A) with an early onset to a relatively mild course with a late onset and phenotype of limb-girdle muscular dystrophy. CMD type 1A is characterized by a delay in motor development from the first months of the life (while the vast majority of children do not master the ability to walk independently), facial muscles weakness, ptosis, ophthalmoplegia, spine rigidity, early occurrence of contractures in the shoulder, elbow, hip and knee joints, restrictive respiratory disorders, nutritional problems, such as disorders of swallowing and chewing, gastroesophageal reflux, low body weight; some children suffer from mental retardation and epilepsy.