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1.
Infection ; 52(4): 1337-1345, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38381306

RESUMO

PURPOSE: This aimed to identify the factors associated with severe/critical coronavirus disease 2019 (COVID-19) infection in rheumatoid arthritis (RA) patients. METHODS: Two-hundred RA patients diagnosed according to the American College of Rheumatology/ European League Against Rheumatism (ACR/EULAR) classification criteria with proven COVID-19 infection were recruited and categorized according to the world health organization (WHO) COVID-19 severity grading into 2 groups: patients with mild/moderate COVID-19 (n = 164) and patients with severe/critical COVID-19 (n = 36). Comparison between both groups was done to identify the risk factors associated with severe/critical infection. Incidence of RA disease activity flare defined as increase in clinical disease activity index (CDAI) more than 10 points following infection was calculated. RESULTS: Multivariate analysis identified history of previous serious infection, age > 60 years, and diabetes as factors positively associated, whereas COVID-19 vaccination was negatively associated with severe/critical infection. Following COVID-19 infection, the number of patients with severe/critical COVID-19 who had high RA disease activity and the incidence of flares was significantly higher in comparison to patients with mild/moderate COVID-19 (P < 0.001 and 0.003; respectively). CONCLUSION: Age > 60 years, diabetes, and history of previous serious infections are risk factors for severe/critical COVID-19, while vaccination has a protective role in RA patients. Infection particularly when severe is associated with risk of disease flare.


Assuntos
Artrite Reumatoide , COVID-19 , SARS-CoV-2 , Índice de Gravidade de Doença , Humanos , Artrite Reumatoide/complicações , Artrite Reumatoide/epidemiologia , COVID-19/epidemiologia , Pessoa de Meia-Idade , Masculino , Feminino , Fatores de Risco , Idoso , Adulto , Fatores Etários , Incidência
2.
Eur Arch Psychiatry Clin Neurosci ; 273(6): 1349-1358, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-36707454

RESUMO

The potential long-term neuropsychiatric effects of COVID-19 are of global concern. This study aimed to determine the prevalence and predictors of neuropsychiatric post-acute sequelae of COVID-19 among Egyptian COVID-19 survivors and to study the impact of full vaccination before COVID-19 infection on the occurrence and severity of these manifestations. Three months after getting COVID-19 infection, 1638 COVID-19 survivors were screened by phone for possible neuropsychiatric sequelae. Subjects suspected to suffer from these sequelae were invited to a face-to-face interview for objective evaluation. They were requested to rate the severity of their symptoms using visual analogue scales (VAS). The mean age of participants was 38.28 ± 13 years. Only 18.6% were fully vaccinated before COVID-19 infection. Neuropsychiatric post-acute sequelae of COVID-19 were documented in 598 (36.5%) subjects, fatigue was the most frequent one (24.6%), followed by insomnia (16.4%), depression (15.3%), and anxiety (14.4%). Moderate and severe COVID-19 infection and non-vaccination increased the odds of developing post-COVID-19 neuropsychiatric manifestations by 2 times (OR 1.95, 95% CI = 1.415-2.683), 3.86 times (OR 3.86, 95% CI = 2.358-6.329), and 1.67 times (OR 1.67, 95% CI = 1.253-2.216), respectively. Fully vaccinated subjects before COVID-19 infection (n = 304) had significantly lesser severity of post-COVID-19 fatigue, ageusia/hypogeusia, dizziness, tinnitus, and insomnia (P value = 0.001, 0.008, < 0.001, 0.025, and 0.005, respectively) than non-vaccinated subjects. This report declared neuropsychiatric sequelae in 36.5% of Egyptian COVID-19 survivors, fatigue being the most prevalent. The effectiveness of COVID-19 vaccines in reducing the severity of some post-COVID-19 neuropsychiatric manifestations may improve general vaccine acceptance.


Assuntos
COVID-19 , Distúrbios do Início e da Manutenção do Sono , Humanos , Adulto , Pessoa de Meia-Idade , COVID-19/complicações , COVID-19/epidemiologia , COVID-19/prevenção & controle , Vacinas contra COVID-19/efeitos adversos , Prevalência , Progressão da Doença , Fadiga/epidemiologia , Fadiga/etiologia
3.
Am J Med Genet A ; 188(3): 970-977, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34862840

RESUMO

Nemaline Myopathy (NM) is a disorder of skeletal muscles caused by mutations in sarcomere proteins and characterized by accumulation of microscopic rod or thread-like structures (nemaline bodies) in skeletal muscles. Patients diagnosed with both NM and infantile cardiomyopathy are very rare. A male infant presented, within the first few hours of life, with severe dilated cardiomyopathy, biventricular dysfunction and left ventricular noncompaction. A muscle biopsy on the 8th day of life from the right sternocleidomastoid muscle identified nemaline rods. Whole exome sequencing identified a c.1288 delT (homozygous pathogenic variant) in the CAP2 gene (NM_006366), yielding a CAP2 protein (NP_006357.1) with a p.C430fs. Both parents were heterozygous for the same variant but have no history of heart or muscle disease. Analysis of patient derived fibroblasts and cardiomyocytes derived from induced pluripotent stem cells confirmed the p.C430fs mutation (pathogenic variant), which appears to cause loss of both CAP2 protein and mRNA. The CAP2 gene encodes cyclase associated protein 2, an actin monomer binding and filament depolymerizing protein and CAP2 knockout mice develop severe dilated cardiomyopathy and muscle weakness. The patient underwent a heart transplant at 1 year of age. Heart tissue explanted at that time also showed nemaline rods and additionally disintegration of the myofibrillar structure. Other extra cardiac concerns include mild hypotonia, atrophic and widened scarring. This is the first description of a patient presenting with nemaline myopathy associated with a pathogenic variant of CAP2.


Assuntos
Cardiomiopatia Dilatada , Miopatias da Nemalina , Proteínas Adaptadoras de Transdução de Sinal/genética , Cardiomiopatia Dilatada/complicações , Cardiomiopatia Dilatada/diagnóstico , Cardiomiopatia Dilatada/genética , Homozigoto , Humanos , Recém-Nascido , Masculino , Proteínas de Membrana/genética , Músculo Esquelético/patologia , Mutação , Miopatias da Nemalina/diagnóstico , Miopatias da Nemalina/genética , Miopatias da Nemalina/patologia
4.
Br J Nutr ; 127(8): 1180-1189, 2022 04 28.
Artigo em Inglês | MEDLINE | ID: mdl-34096487

RESUMO

COVID-19 pandemic continues to be a global health crisis. The gut microbiome critically affects the immune system, and some respiratory infections are associated with changes in the gut microbiome; here, we evaluated the role of nutritional and lifestyle habits that modulate gut microbiota on COVID-19 outcomes in a longitudinal cohort study that included 200 patients infected with COVID-19. Of these, 122 cases were mild and seventy-eight were moderate, according to WHO classification. After detailed explanation by a consultant in clinical nutrition, participants responded to a written questionnaire on daily sugar, prebiotic intake in food, sleeping hours, exercise duration and antibiotic prescription, during the past 1 year before infection. Daily consumption of prebiotic-containing foods, less sugar, regular exercise, adequate sleep and fewer antibiotic prescriptions led to a milder disease and rapid virus clearance. Additionally, data on these factors were compiled into a single score, the ESSAP score (Exercise, Sugar consumption, Sleeping hours, Antibiotics taken, and Prebiotics consumption; 0-11 points), median ESSAP score was 5 for both mild and moderate cases; however, the range was 4-8 in mild cases, but 1-6 in moderate (P = 0·001, OR: 4·2, 95 % CI 1·9, 9·1); our results showed a negative correlation between regular consumption of yogurt containing probiotics and disease severity (P = 0·007, OR: 1·6, 95 % CI 1·1, 2·1). Mild COVID-19 disease was associated with 10-20 min of daily exercise (P = 0·016), sleeping at least 8 h daily, prescribed antibiotics less than 5 times per year (P = 0·077) and ate plenty of prebiotic-containing food.


Assuntos
COVID-19 , Microbioma Gastrointestinal , Probióticos , Humanos , Estudos Longitudinais , Pandemias , Prebióticos , SARS-CoV-2
5.
Thromb J ; 20(1): 77, 2022 Dec 16.
Artigo em Inglês | MEDLINE | ID: mdl-36522776

RESUMO

BACKGROUND: Thromboembolism was a chief cause of mortality in 70% of patients with COVID-19. Our objective was to see if serum interleukins 1 beta (IL-1ß) and soluble platelets selectin (sP-selectin) could serve as novel markers of thromboembolism in COVID-19 patients. METHODS: This cross sectional study involved 89 COVID-19 patients who were recruited from 1st of February to 1st of May 2021. Clinical and laboratory data were collected, and chest imaging was performed. The levels of IL-1ß and sP-selectin were assessed in all cases through ELISA kits. Comparisons between groups were done using an unpaired t-test in normally distributed quantitative variables. In contrast, a non-parametric Mann-Whitney test was used for non-normally distributed quantitative variables. RESULTS: Severe COVID-19 infection was associated with higher serum levels of CRP, Ferritin, LDH, D dimer, IL-1ß and sP-selectin (P <  0.001) with significant correlation between levels of IL-1ß and sP-selectin (r 0.37, P <  0.001), D-dimer (r 0.29, P 0.006) and Ferritin (r 0.5, p <  0.001). Likewise, a positive correlation was also found between levels of sP-selectin, D-dimer and Ferritin (r 0.52, P <  0.001) (r 0.59, P <  0.001). Imaging studies revealed that 9 (10.1%) patients developed venous and 14 (15.7%) developed arterial thrombosis despite receiving anticoagulant therapy. Patients with thrombotic events had significantly higher levels of IL-1ß, sP-selectin and LDH serum levels. Meanwhile, there was no statistical significance between CRP, D-dimer or Ferritin levels and the development of thrombotic events. CONCLUSION: IL-1ß and sP-selectin levels can be promising predictors for severe COVID-19 infection and predictable thrombosis.

6.
J Nerv Ment Dis ; 210(4): 264-269, 2022 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-34775399

RESUMO

ABSTRACT: Stigma and uncertainty are noticed in global pandemics. Their impacts on health care providers tend to persist notably during and after the outbreaks. Our objective was to assess stigma, uncertainty, and coping among health care providers through an online survey using the Discrimination and Stigma Scale Version 12 (DISC-12) modified version to assess stigma related to treating COVID-19, the Intolerance of Uncertainty Scale, and the Brief Resilient Coping Scale (BRCS). Of the respondents (n = 65), 63.1% treated patients with COVID-19, and 21.5% worked in isolation hospitals. Physicians who treated patients with COVID-19 had significantly higher scores in all DISC subscales: unfair treatment (8.73 ± 6.39, p = 0.001), stopping self from doing things (2.05 ± 1.41, p = 0.019), overcoming stigma (1.17 ± 0.80, p = 0.035), and positive treatment (1.90 ± 1.65, p = 0.005). Unfair treatment was negatively correlated with BRCS (r = -0.279, p = 0.024). On the other hand, physicians who did not treat patients with COVID-19 had significantly higher BRCS scores. We concluded that frontline physicians experienced greater stigma associated with lower resilient coping strategies.


Assuntos
COVID-19 , Médicos , Adaptação Psicológica , Humanos , Pandemias , Incerteza
7.
J Headache Pain ; 23(1): 101, 2022 Aug 12.
Artigo em Inglês | MEDLINE | ID: mdl-35962348

RESUMO

BACKGROUND: The burden of post-coronavirus disease (COVID)-19 symptoms has been increasing and is of great concern in patients with pre-existing chronic medical conditions.This study aimed to delineate the post-COVID-19 neuropsychiatric symptoms among migraine patients compared to the non-migraine control group. METHODS: Two groups, each of 204 COVID-19 survivors, were enrolled in the study after 3 months of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection, one group fulfilling the episodic migraine criteria and the other serving as a matching control group. Subjects were evaluated through an in-person interview for post-COVID-19 neuropsychiatric symptoms, including detailed headache patterns and severity, using the visual analogue scale. RESULTS: The Frequency of headache during the acute phase of COVID-19 was more frequent in migraine patients (OR = 1.60, 95%CI = 1.04-2.45, P-value = 0.031). The reported significant post-COVID-19 neuropsychiatric symptoms in migraine patients compared to controls were fatigue (OR = 1.662, 95%CI = 1.064-2.596, P-value = 0.025), anosmia/hyposmia (OR = 2.06, 95%CI = 1.164- 3.645, P-value = 0.012), cacosmia (OR = 2.663, 95%CI = 1.145-6.195, P-value = 0.019), depression (OR = 2.259, 95%CI = 1.284- 3.975, P-value = 0.004), anxiety (OR = 3.267, 95%CI = 1.747- 6.108, P-value ≤ 0.001), insomnia (OR = 2.203, 95%CI = 1.298- 3.739, P-value = 0.003), and headache (OR = 3.148, 95%CI = 1.616-6.136, P-value = ≤ 0.001).While there was no statistically significant difference between migraine patients and controls regarding the post-COVID-19 functional status score (P-value = 0.102). The pattern of post-COVID-19 headache was reported as chronic headache transformation in 17.6% of the migraine group, with the median intensity rate being 5.5 and IQR (3-7). In the control group, 14% experienced chronic headache attributed to systemic viral infection with a median intensity rate of 2 and IQR (2-5), while 12% experienced a new daily persistent headache with a median intensity of 5 and IQR (1-6). CONCLUSION: The study highlighted the importance of follow-up migraine patients upon recovery from COVID-19 infection, being more vulnerable to post-COVID-19 symptoms.


Assuntos
COVID-19 , Transtornos de Enxaqueca , COVID-19/complicações , Estudos de Casos e Controles , Cefaleia/epidemiologia , Cefaleia/etiologia , Humanos , SARS-CoV-2 , Sobreviventes
8.
Pain Med ; 22(9): 2092-2099, 2021 09 08.
Artigo em Inglês | MEDLINE | ID: mdl-33544857

RESUMO

OBJECTIVES: Headache is considered one of the most frequent neurological manifestations of coronavirus disease 2019 (COVID-19). This work aimed to identify the relative frequency of COVID-19-related headache and to clarify the impact of clinical, laboratory findings of COVID-19 infection on headache occurrence and its response to analgesics. DESIGN: Cross-sectional study. SETTING: Recovered COVID-19 patients. SUBJECTS: In total, 782 patients with a confirmed diagnosis of COVID-19 infection. METHODS: Clinical, laboratory, and imaging data were obtained from the hospital medical records. Regarding patients who developed COVID-19 related headache, a trained neurologist performed an analysis of headache and its response to analgesics. RESULTS: The relative frequency of COVID-19 related headache among our sample was 55.1% with 95% confidence interval (CI) (.516-.586) for the estimated population prevalence. Female gender, malignancy, primary headache, fever, dehydration, lower levels of hemoglobin and platelets and higher levels of neutrophil/lymphocyte ratio (NLR) and CRP were significantly associated with COVID-19 related headache. Multivariate analysis revealed that female gender, fever, dehydration, primary headache, high NLR, and decreased platelet count were independent predictors of headache occurrence. By evaluating headache response to analgesics, old age, diabetes, hypertension, primary headache, severe COVID-19, steroid intake, higher CRP and ferritin and lower hemoglobin levels were associated with poor response to analgesics. Multivariate analysis revealed that primary headache, steroids intake, moderate and severe COVID-19 were independent predictors of non-response to analgesics. DISCUSSION: Headache occurs in 55.1% of patients with COVID-19. Female gender, fever, dehydration, primary headache, high NLR, and decreased platelet count are considered independent predictors of COVID-19 related headache.


Assuntos
COVID-19 , Estudos Transversais , Egito/epidemiologia , Feminino , Cefaleia/diagnóstico , Cefaleia/epidemiologia , Hospitais , Humanos , Fatores de Risco , SARS-CoV-2
9.
Cephalalgia ; 40(13): 1422-1431, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-33146038

RESUMO

OBJECTIVE: To study the characteristics of headache attributed to COVID-19 infection and predictors of its severity. METHODS: A cross-sectional study involved 172 individuals who had headache due to COVID-19 infection. A detailed analysis of such headache was done through a face-to-face interview. Patients with any other form of secondary headache were excluded. Labs, including lymphocytic count, C-reactive protein, D-dimer and ferritin and chest imaging, were made available. RESULTS: THE: majority of our patients had a diffuse headache (52.9%). It was pressing in 40.7%, with median intensity of 7 (assessed by visual analogue scale) and median frequency of 7 days/week. Patients with preexisting primary headache (52.9%) had significantly more frequent COVID-19 related headache than those without (47.1%) (p = 0.001). Dehydrated patients (64.5%) had more frequent COVID-19 related headache than those who were not dehydrated (35.5%) (p = 0.029). Patients with fever (69.8%) had significantly higher frequency and intensity of COVID-19 related headache compared to those without fever (30.2%) (p = 0.003, 0.012). Patients with comorbidities (19.8%) had significantly higher frequency and intensity of headache than those without comorbidities (80.2%) (p = 0.006, 0.003). After multiple linear regression, primary headache disorders, dehydration and comorbidities were considered predictors of frequency of COVID-19 related headache. Meanwhile, fever and dehydration were predictors of pain intensity. CONCLUSION: Healthcare providers of COVID-19 patients need to be aware of frequency and intensity predictors of COVID-19 related headache: Primary headache disorders, fever, dehydration, and comorbidities.


Assuntos
Infecções por Coronavirus/complicações , Cefaleia/epidemiologia , Cefaleia/virologia , Pneumonia Viral/complicações , Adulto , Betacoronavirus , COVID-19 , Estudos Transversais , Feminino , Humanos , Masculino , Pandemias , SARS-CoV-2
10.
Muscle Nerve ; 53(4): 570-8, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26260293

RESUMO

INTRODUCTION: An opt-out newborn screening (NBS) program for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) was implemented at 2 hospitals in Pittsburgh, Pennsylvania, between 1987 and 1995. METHODS: For patients and their parents in families who received a diagnosis of DMD or BMD, either by NBS or by traditional diagnostics after symptom onset, attitudes toward NBS for DMD and BMD were assessed. RESULTS: All patients and most parents supported NBS for DMD and BMD. In contrast to the NBS parent cohort, the non-NBS cohort felt that diagnosis by NBS would cause anxiety. CONCLUSIONS: There was strong support of NBS for DMD and BMD in both patients and their parents in families who received a diagnosis through NBS or through traditional diagnostics. No negative psychosocial impacts of NBS were identified among those families who received a diagnosis through NBS.


Assuntos
Distrofias Musculares/diagnóstico , Distrofias Musculares/psicologia , Triagem Neonatal/métodos , Triagem Neonatal/tendências , Adolescente , Adulto , Estudos de Coortes , Feminino , Seguimentos , Testes Genéticos/métodos , Testes Genéticos/tendências , Humanos , Recém-Nascido , Masculino , Adulto Jovem
11.
Muscle Nerve ; 54(2): 186-91, 2016 08.
Artigo em Inglês | MEDLINE | ID: mdl-27170260

RESUMO

New developments in the rapid diagnosis and treatment of boys with Duchenne muscular dystrophy (DMD) have led to growing enthusiasm for instituting DMD newborn screening (NBS) in the United States. Our group has been interested in developing clinical guidance to be implemented consistently in specialty care clinics charged with the care of presymptomatically identified newborns referred after DMD-NBS. We reviewed the existing literature covering patient-centered clinical follow-up after NBS, educational material from public health and advocacy sites, and federal recommendations on effective NBS follow-up. We discussed the review as a group and added our own experience to develop materials suitable for initial parent and primary care provider education. These materials and a series of templates for subspecialist encounters could be used to provide consistent care across centers and serve as the basis for ongoing quality improvement. Muscle Nerve 54: 186-191, 2016.


Assuntos
Distrofia Muscular de Duchenne/diagnóstico , Triagem Neonatal/métodos , Feminino , Seguimentos , Humanos , Recém-Nascido , Masculino
12.
Muscle Nerve ; 49(6): 822-8, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24307279

RESUMO

INTRODUCTION: Disease inclusion in the newborn screening (NBS) panel should consider the opinions of those most affected by the outcome of screening. We assessed the level and factors that affect parent attitudes regarding NBS panel inclusion of Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and spinal muscular atrophy (SMA). METHODS: The attitudes toward NBS for DMD, BMD, and SMA were surveyed and compared for 2 categories of parents, those with children affected with DMD, BMD, or SMA and expectant parents unselected for known family medical history. RESULTS: The level of support for NBS for DMD, BMD, and SMA was 95.9% among parents of children with DMD, BMD, or SMA and 92.6% among expectant parents. CONCLUSIONS: There was strong support for NBS for DMD, BMD, and SMA in both groups of parents. Given advances in diagnostics and promising therapeutic approaches, discussion of inclusion in NBS should continue.


Assuntos
Atitude Frente a Saúde , Distrofia Muscular de Duchenne/diagnóstico , Triagem Neonatal/psicologia , Pais/psicologia , Atrofias Musculares Espinais da Infância/diagnóstico , Adulto , Ansiedade/psicologia , Estudos de Coortes , Diagnóstico Precoce , Emoções , Feminino , Inquéritos Epidemiológicos , Humanos , Recém-Nascido , Masculino , Inquéritos e Questionários
14.
Sarcoidosis Vasc Diffuse Lung Dis ; 40(2): e2023017, 2023 Jun 29.
Artigo em Inglês | MEDLINE | ID: mdl-37382070

RESUMO

BACKGROUND AND AIM: The prognosis of sarcoidosis is challenging and largely depends on the persistence of disease activity and the degree of organ dysfunction. Various biomarkers have been evaluated for diagnosis, disease activity assessment, and prognosis. This study aimed to determine if the ratios of monocytes to high-density lipoprotein cholesterol (MHR), platelets to lymphocytes (PLR), neutrophils to lymphocytes (NLR), and lymphocytes to monocytes ratio (LMR) could be used as novel sarcoidosis activity markers. METHODS: In a case-control study, 54 patients with biopsy-confirmed sarcoidosis were divided into two groups; group 1: consisted of 27 patients with active sarcoidosis who were newly diagnosed and treatment-naive, and group 2: consisted of 27 patients with inactive sarcoidosis who had been on treatment for at least 6 months. All patients were subjected to a comprehensive history, physical examination, laboratory tests, chest imaging, spirometry, and screening for extrapulmonary organ involvement by means of electrocardiogram and eye examination. RESULTS: The mean age of the patients was 44 ± 11 years (79.6% were females & 20.4% were males). MHR, NLR, and LMR were significantly higher in patients with active sarcoidosis than in an inactive disease with a cut-off value of 8.6, a sensitivity of 81.5%, and a specificity of 70.4% (P-value < 0.001), a cut-off value of 1.95, sensitivity of 74% and specificity of 66.7% (P-value 0.007) and a cut-off value of < 4, a sensitivity of 81.5%, and a  specificity of 85.2% (P-value < 0.001), respectively. In contrast, PLR was not statistically significant between active and inactive sarcoidosis patients. CONCLUSIONS: The lymphocytes monocytes ratio is a highly sensitive and specific biomarker that could be used to assess the disease activity in sarcoidosis patients.

15.
Sci Rep ; 13(1): 8868, 2023 05 31.
Artigo em Inglês | MEDLINE | ID: mdl-37258647

RESUMO

Hypersensitivity pneumonitis (HP) is an interstitial lung disease that develops after inhalation of a variety antigens in susceptible individuals. The nasal mucosa is constantly exposed to these antigens that can irritate the respiratory mucosa. So, the purpose of this study was to study nasal histopathological changes in order to identify any shared pathological changes between the upper airways and the well-known pathological features of HP. 40 HP patients diagnosed at the Chest Department, Kasr Alainy hospital following ATS/JRS/ALAT guidelines were included. Patients were subjected to thorough history, high-resolution computed tomography, spirometry, cough evaluation test (CET), sinonasal outcome test-22 (SNOT-22), sinonasal examination and nasal mucosal biopsy by an otolaryngologist under visualization by a rigid nasal endoscope. The mean age of the patients was 46.2 ± 13.5 (85% were females and 15% were males). 90% of patients presented with cough and the mean CET was 17.15 ± 5.59.77.5% of patients suffered from sinonasal symptoms and the mean SNOT-22 was 12.18 ± 3.8. There was a significant correlation between the burden of sinonasal symptoms represented by the SNOT-22 and the severity of the cough represented by CET (r 0.40, p 0.01). 87.5% of HP patients had chronic inflammation of the nasal mucosa with predominant lymphocytic infiltration in 72.5% of patients. 77.5% of HP patients had a high burden of sinonasal symptoms which is positively associated with cough severity. 72.5% of patients had predominately lymphocytic infiltration of the nasal mucosa.Trial registration: retrospectively registered, registration number is NCT05723796, date of registration 13/02/2023.


Assuntos
Alveolite Alérgica Extrínseca , Tosse , Feminino , Humanos , Masculino , Endoscopia , Cavidade Nasal/patologia , Mucosa Nasal/patologia , Adulto , Pessoa de Meia-Idade
16.
Curr Opin Neurol ; 25(5): 604-8, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22941265

RESUMO

PURPOSE OF REVIEW: The study reviews recent advances in pharmacological management of muscular dystrophies. Similarities and differences among the pathophysiology of different forms of muscular dystrophy lead to a broad array of approaches to provide new treatments. RECENT FINDINGS: In this review, we include only those muscular dystrophies for which advances have been published in the past year. This represents the 'advancing edge' of a large body of research over more than 20 years. This runs the gamut of new discoveries in symptomatic management to mutation-specific strategies that attempt to correct the root cause of the disorder. SUMMARY: The field of pharmacological therapies for the muscular dystrophies continues to steadily advance. It is encouraging that research into new therapies is increasingly exploring pharmacological strategies with the potential to ameliorate disease pathology to a clinically significant degree.


Assuntos
Distrofias Musculares/tratamento farmacológico , Corticosteroides/uso terapêutico , Bloqueadores do Receptor Tipo 1 de Angiotensina II/uso terapêutico , Inibidores da Enzima Conversora de Angiotensina/uso terapêutico , Animais , Antiarrítmicos/uso terapêutico , Anti-Inflamatórios/uso terapêutico , Osso e Ossos/patologia , Códon sem Sentido/efeitos dos fármacos , Humanos , Mexiletina/uso terapêutico , Distrofia Muscular de Duchenne/tratamento farmacológico , Distrofia Muscular Facioescapuloumeral/tratamento farmacológico , Distrofia Miotônica/tratamento farmacológico , Utrofina/biossíntese , Utrofina/fisiologia
17.
Am J Med Genet A ; 158A(9): 2139-51, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22847869

RESUMO

Chromosome 4q deletion syndrome (4q- syndrome) is a rare condition, with an estimated incidence of 1 in 100,000. Although variable, the clinical spectrum commonly includes craniofacial, developmental, digital, skeletal, and cardiac involvement. Data on the genotype-phenotype correlation within the 4q arm are limited. We present detailed clinical and genetic information by array CGH on 20 patients with 4q deletions. We identified a patient who has a ∼465 kb deletion (186,770,069-187,234,800, hg18 coordinates) in 4q35.1 with all clinical features for 4q deletion syndrome except for developmental delay, suggesting that this is a critical region for this condition and a specific gene responsible for orofacial clefts and congenital heart defects resides in this region. Since the patients with terminal deletions all had cleft palate, our results provide further evidence that a gene associated with clefts is located on the terminal segment of 4q. By comparing and contrasting our patients' genetic information and clinical features, we found significant genotype-phenotype correlations at a single gene level linking specific phenotypes to individual genes. Based on these data, we constructed a hypothetical partial phenotype-genotype map for chromosome 4q which includes BMP3, SEC31A, MAPK10, SPARCL1, DMP1, IBSP, PKD2, GRID2, PITX2, NEUROG2, ANK2, FGF2, HAND2, and DUX4 genes.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 4 , Hibridização Genômica Comparativa , Feminino , Genótipo , Humanos , Hibridização in Situ Fluorescente , Lactente , Fenótipo , Síndrome
18.
Sci Rep ; 12(1): 18762, 2022 11 05.
Artigo em Inglês | MEDLINE | ID: mdl-36335191

RESUMO

We evaluated whether whole-body dual-energy X-ray absorptiometry (DXA) measures of lean body mass can be used as biomarkers for disease progression and treatment effects in patients with Duchenne muscular dystrophy. This post hoc analysis utilized data from a randomized, 2-period study of domagrozumab versus placebo in 120 ambulatory boys with DMD. DXA measures of lean body mass were obtained from the whole body (excluding head), arms, legs and appendicular skeleton at baseline and every 16 weeks. Treatment effects on DXA measures for domagrozumab versus placebo were assessed at Week 49. At Week 49, domagrozumab statistically significantly increased lean body mass versus placebo in the appendicular skeleton (p = 0.050) and arms (p < 0.001). The relationship between lean body mass at Week 49 and functional endpoints at Week 97 was evaluated. Changes in lean body mass at Week 49 in all regions except arms were significantly correlated with percent change from baseline in 4-stair climb (4SC) at Week 97. DXA-derived percent lean mass at Week 49 also correlated with 4SC and North Star Ambulatory Assessment at Week 97. These data indicate that whole-body DXA measures can be used as biomarkers for treatment effects and disease progression in patients with DMD, and warrant further investigation.Trial registration: ClinicalTrials.gov, NCT02310763; registered 8 December 2014.


Assuntos
Distrofia Muscular de Duchenne , Masculino , Humanos , Absorciometria de Fóton , Distrofia Muscular de Duchenne/diagnóstico por imagem , Distrofia Muscular de Duchenne/tratamento farmacológico , Composição Corporal , Biomarcadores , Progressão da Doença
19.
J Neurol ; 269(8): 4421-4435, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35396602

RESUMO

Duchenne muscular dystrophy (DMD) is a progressive, neuromuscular disorder caused by mutations in the DMD gene that results in a lack of functional dystrophin protein. Herein, we report the use of quantitative magnetic resonance imaging (MRI) measures as biomarkers in the context of a multicenter phase 2, randomized, placebo-controlled clinical trial evaluating the myostatin inhibitor domagrozumab in ambulatory boys with DMD (n = 120 aged 6 to < 16 years). MRI scans of the thigh to measure muscle volume, muscle volume index (MVI), fat fraction, and T2 relaxation time were obtained at baseline and at weeks 17, 33, 49, and 97 as per protocol. These quantitative MRI measurements appeared to be sensitive and objective biomarkers for evaluating disease progression, with significant changes observed in muscle volume, MVI, and T2 mapping measures over time. To further explore the utility of quantitative MRI measures as biomarkers to inform longer term functional changes in this cohort, a regression analysis was performed and demonstrated that muscle volume, MVI, T2 mapping measures, and fat fraction assessment were significantly correlated with longer term changes in four-stair climb times and North Star Ambulatory Assessment functional scores. Finally, less favorable baseline measures of MVI, fat fraction of the muscle bundle, and fat fraction of lean muscle were significant risk factors for loss of ambulation over a 2-year monitoring period. These analyses suggest that MRI can be a valuable tool for use in clinical trials and may help inform future functional changes in DMD.Trial registration: ClinicalTrials.gov identifier, NCT02310763; registered December 2014.


Assuntos
Distrofia Muscular de Duchenne , Anticorpos Monoclonais Humanizados , Biomarcadores/metabolismo , Progressão da Doença , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Músculo Esquelético/patologia , Distrofia Muscular de Duchenne/diagnóstico por imagem , Distrofia Muscular de Duchenne/tratamento farmacológico , Distrofia Muscular de Duchenne/metabolismo
20.
J Neuromuscul Dis ; 9(1): 39-52, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34420980

RESUMO

BACKGROUND: Studies 4658-201/202 (201/202) evaluated treatment effects of eteplirsen over 4 years in patients with Duchenne muscular dystrophy and confirmed exon-51 amenable genetic mutations. Chart review Study 4658-405 (405) further followed these patients while receiving eteplirsen during usual clinical care. OBJECTIVE: To compare long-term clinical outcomes of eteplirsen-treated patients from Studies 201/202/405 with those of external controls. METHODS: Median total follow-up time was approximately 6 years of eteplirsen treatment. Outcomes included loss of ambulation (LOA) and percent-predicted forced vital capacity (FVC%p). Time to LOA was compared between eteplirsen-treated patients and standard of care (SOC) external controls and was measured from eteplirsen initiation in 201/202 or, in the SOC group, from the first study visit. Comparisons were conducted using univariate Kaplan-Meier analyses and log-rank tests, and multivariate Cox proportional hazards models with regression adjustment for baseline characteristics. Annual change in FVC%p was compared between eteplirsen-treated patients and natural history study patients using linear mixed models with repeated measures. RESULTS: Data were included from all 12 patients in Studies 201/202 and the 10 patients with available data from 405. Median age at LOA was 15.16 years. Eteplirsen-treated patients experienced a statistically significant longer median time to LOA by 2.09 years (5.09 vs. 3.00 years, p < 0.01) and significantly attenuated rates of pulmonary decline vs. natural history patients (FVC%p change: -3.3 vs. -6.0 percentage points annually, p < 0.0001). CONCLUSIONS: Study 405 highlights the functional benefits of eteplirsen on ambulatory and pulmonary function outcomes up to 7 years of follow-up in comparison to external controls.


Assuntos
Progressão da Doença , Limitação da Mobilidade , Morfolinos/farmacologia , Distrofia Muscular de Duchenne/tratamento farmacológico , Distrofia Muscular de Duchenne/fisiopatologia , Avaliação de Resultados em Cuidados de Saúde , Sistema de Registros , Adolescente , Criança , Humanos , Masculino , Morfolinos/administração & dosagem , Estudos Prospectivos , Estudos Retrospectivos , Fatores de Tempo , Capacidade Vital , Teste de Caminhada
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