scholarly journals CASE REPORT ON EPIDERMOLYSIS BULLOSA- A RARE DISORDERS

2016 ◽  
Vol 3 (3) ◽  
pp. 298-300
Author(s):  
Dileepreddy Gottimuukula ◽  
Rakesh Chakinala ◽  
Surender Kagithapu ◽  
Yogi Morishetty ◽  
Goverdhan Puchchakayala
Keyword(s):  
Respiratory Distress ◽  
Epidermolysis Bullosa ◽  
Wound Care ◽  
Treatment Options ◽  
Specific Treatment ◽  
Skin Lesions ◽  
Rare Disorders ◽  
Severe Respiratory Distress ◽  
Male Neonate ◽  
Rare Group

Epidermolysis bullosa is a rare group of skin disorders which is characterized by extreme fragility of skin and mucous memberane, which leads to formation of blisters and skin lesions. It affects 1 out of every 50,000 live births. There is no specific treatment, daily wound care and pain management are the only available treatment options. Here we report a case of male neonate with epidermolysis bullosa and respiratory distress. The neonate was died due to severe respiratory distress.

scholarly journals Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa

2021 ◽  
Vol 22 (22) ◽  
pp. 12222
Author(s):  
Franciscus C. Vermeer ◽  
Jeroen Bremer ◽  
Robert J. Sietsma ◽  
Aileen Sandilands ◽  
Robyn P. Hickerson ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Messenger Rna ◽  
Wound Care ◽  
Symptomatic Relief ◽  
Treatment Options ◽  
Treatment Strategies ◽  
Specific Treatment ◽  
Exon Skipping ◽  
Childhood Mortality

Epidermolysis bullosa is a group of genetic skin conditions characterized by abnormal skin (and mucosal) fragility caused by pathogenic variants in various genes. The disease severity ranges from early childhood mortality in the most severe types to occasional acral blistering in the mildest types. The subtype and severity of EB is linked to the gene involved and the specific variants in that gene, which also determine its mode of inheritance. Current treatment is mainly focused on symptomatic relief such as wound care and blister prevention, because truly curative treatment options are still at the preclinical stage. Given the current level of understanding, the broad spectrum of genes and variants underlying EB makes it impossible to develop a single treatment strategy for all patients. It is likely that many different variant-specific treatment strategies will be needed to ultimately treat all patients. Antisense-oligonucleotide (ASO)-mediated exon skipping aims to counteract pathogenic sequence variants by restoring the open reading frame through the removal of the mutant exon from the pre-messenger RNA. This should lead to the restored production of the protein absent in the affected skin and, consequently, improvement of the phenotype. Several preclinical studies have demonstrated that exon skipping can restore protein production in vitro, in skin equivalents, and in skin grafts derived from EB-patient skin cells, indicating that ASO-mediated exon skipping could be a viable strategy as a topical or systemic treatment. The potential value of exon skipping for EB is supported by a study showing reduced phenotypic severity in patients who carry variants that result in natural exon skipping. In this article, we review the substantial progress made on exon skipping for EB in the past 15 years and highlight the opportunities and current challenges of this RNA-based therapy approach. In addition, we present a prioritization strategy for the development of exon skipping based on genomic information of all EB-involved genes.

scholarly journals Bilateral Pulmonary Langerhans's Cell Histiocytosis is Surgical Challenge in Children: A Case Report

2019 ◽  
Vol 07 (01) ◽  
pp. e8-e11
Author(s):  
Tutku Soyer ◽  
Gül Özyüksel ◽  
Özlem Boybeyi Türer ◽  
Kübra Çakmakkaya ◽  
Sinan Yavuz ◽  
...  
Keyword(s):  
Case Report ◽  
Respiratory Distress ◽  
Treatment Options ◽  
Surgical Excision ◽  
Neck Mass ◽  
Treatment Alternative ◽  
Lethal Outcome ◽  
Talc Pleurodesis ◽  
Severe Respiratory Distress ◽  
Surgical Options

Background Pulmonary Langerhans's cell histiocytosis (PLCH) is a rare cause of interstitial lung disease in children and more than half of the cases are bilateral. Persistent respiratory distress due to spontaneous pneumothorax (SP) in bilateral PLCH may refractory to conservative treatment and posed a great challenge to surgical modalities. A 3-year-old boy with SP due to bilateral PLCH is presented to discuss the surgical options of recurrent and refractory PLCH cases in children. Case Report The patient was admitted to the emergency department with severe respiratory distress and SP. After chest tube insertion, biopsy from neck mass revealed Langerhans's cell histiocytosis. Chemotherapy including vinblastine and prednisone was initiated. Due to persistent respiratory difficulty and air leaks, talc pleurodesis and thoracoscopic bullae excision with pleural decortication were performed. Two months after the admission, due to nosocomial infection and severe respiratory distress, extracorporeal membranous oxygenation (ECMO) support was initiated. The patient was died of ECMO complications on 24th day of ECMO. Conclusion Despite the use of chemotherapy and surgical excision of cystic lesions, bilateral PLCH in children may have lethal outcome. Other treatment options including respiratory support with ECMO and lung transplantation should be considered as last resort of treatment alternative in persistent cases.

scholarly journals Epidermolysis bullosa in newborn: a case report

2017 ◽  
Vol 4 (6) ◽  
pp. 2223
Author(s):  
Gursharn Singh Narang ◽  
Ashwani Kumar ◽  
Navneet Virk ◽  
Supriya Malik
Keyword(s):  
Case Report ◽  
Connective Tissue ◽  
Epidermolysis Bullosa ◽  
Wound Care ◽  
Treatment Options ◽  
Connective Tissue Disorder ◽  
Patient Treatment ◽  
Minor Trauma ◽  
Prominent Symptom ◽  
Degrees Of Severity

Epidermolysis bullosa is a rare genetic connective tissue disorder. It has many genetic and symptomatic variations but all share the prominent symptom of extremely fragile skin that blisters and tears from minor trauma in the varying degrees of severity and can severely incapacitate the life of the afflicted patient. Treatment still remains a major challenge. Daily wound care, pain management and protective bandaging are the only available treatment options.

scholarly journals ABCA3 Gene Defect - Cause of Severe Respiratory Distress and Failure in Newborn

2021 ◽  
Vol 8 (11) ◽  
pp. 23-25
Author(s):  
Neetu Yadav ◽  
Nivedita Seehra ◽  
Satish Mishra
Keyword(s):  
Family History ◽  
Respiratory Distress Syndrome ◽  
Respiratory Distress ◽  
Neonatal Death ◽  
Distress Syndrome ◽  
Gene Defect ◽  
Severe Respiratory Distress ◽  
Missense Variation ◽  
Near Term ◽  
Male Neonate

Surfactant metabolism disorders are rare cause of RDS in term neonates. A near term male neonate presented with respiratory distress syndrome (required Surfactant multiple times) with family history of one still birth and one neonatal death due to RDS in previous siblings. A homozygous missense variation in exon 7 of the ABCA3 gene that results in the amino acid substitution of leucine for proline at codon 186 was detected. He died of severe respiratory failure even after multiple doses of surfactant and ventilation. Surfactant deficiency with ABCA3 gene mutation needs to be suspected in term neonate who present with respiratory distress syndrome with family history or neonatal death with respiratory distress. Keywords: ABCA3 gene defect, Respiratory distress syndrome (RDS), neonates, neonatal death.

scholarly journals Molecular Subtypes and Precision Oncology in Intrahepatic Cholangiocarcinoma

2021 ◽  
Vol 10 (13) ◽  
pp. 2803
Author(s):  
Carolin Czauderna ◽  
Martha M. Kirstein ◽  
Hauke C. Tews ◽  
Arndt Vogel ◽  
Jens U. Marquardt
Keyword(s):  
Clinical Care ◽  
Treatment Options ◽  
Treatment Strategies ◽  
Specific Treatment ◽  
Growth Factor Receptor ◽  
Treatment Modalities ◽  
Precision Oncology ◽  
Recurrence Rates ◽  
Isocitrate Dehydrogenase 1 ◽  
Liver Cancers

Cholangiocarcinomas (CCAs) are the second-most common primary liver cancers. CCAs represent a group of highly heterogeneous tumors classified based on anatomical localization into intra- (iCCA) and extrahepatic CCA (eCCA). In contrast to eCCA, the incidence of iCCA is increasing worldwide. Curative treatment strategies for all CCAs involve oncological resection followed by adjuvant chemotherapy in early stages, whereas chemotherapy is administered at advanced stages of disease. Due to late diagnosis, high recurrence rates, and limited treatment options, the prognosis of patients remains poor. Comprehensive molecular characterization has further revealed considerable heterogeneity and distinct prognostic and therapeutic traits for iCCA and eCCA, indicating that specific treatment modalities are required for different subclasses. Several druggable alterations and oncogenic drivers such as fibroblast growth factor receptor 2 gene fusions and hotspot mutations in isocitrate dehydrogenase 1 and 2 mutations have been identified. Specific inhibitors have demonstrated striking antitumor activity in affected subgroups of patients in phase II and III clinical trials. Thus, improved understanding of the molecular complexity has paved the way for precision oncological approaches. Here, we outline current advances in targeted treatments and immunotherapeutic approaches. In addition, we delineate future perspectives for different molecular subclasses that will improve the clinical care of iCCA patients.

scholarly journals Clinical Management of Hypertension, Inflammation and Thrombosis in Hospitalized COVID-19 Patients: Impact on Survival and Concerns

2021 ◽  
Vol 10 (5) ◽  
pp. 1073
Author(s):  
Patricia Martínez-Botía ◽  
Ángel Bernardo ◽  
Andrea Acebes-Huerta ◽  
Alberto Caro ◽  
Blanca Leoz ◽  
...  
Keyword(s):  
Arterial Hypertension ◽  
Clinical Management ◽  
Cox Regression ◽  
Angiotensin Receptor Blockers ◽  
Treatment Options ◽  
Clinical Manifestations ◽  
Specific Treatment ◽  
Hospitalized Patients ◽  
Thrombosis Prophylaxis ◽  
The Impact

The most severe clinical manifestations of the Coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), are due to an unbalanced immune response and a pro-thrombotic hemostatic disturbance, with arterial hypertension or diabetes as acknowledged risk factors. While waiting for a specific treatment, the clinical management of hospitalized patients is still a matter of debate, and the effectiveness of treatments to manage clinical manifestations and comorbidities has been questioned. In this study, we aim to assess the impact of the clinical management of arterial hypertension, inflammation and thrombosis on the survival of COVID-19 patients. The Spanish cohorts included in this observational retrospective study are from HM Hospitales (2035 patients) and from Hospital Universitario Central de Asturias (72 patients). Kaplan Meier survival curves, Cox regression and propensity score matching analyses were employed, considering demographic variables, comorbidities and treatment arms (when opportune) as covariates. The management of arterial hypertension with angiotensin-converting enzyme 2 (ACE2) inhibitors or angiotensin receptor blockers is not detrimental, as was initially reported, and neither was the use of non-steroidal anti-inflammatory drugs (NSAIDs). On the contrary, our analysis shows that the use on itself of corticosteroids is not beneficial. Importantly, the management of COVID-19 patients with low molecular weight heparin (LMWH) as an anticoagulant significantly improves the survival of hospitalized patients. These results delineate the current treatment options under debate, supporting the effectiveness of thrombosis prophylaxis on COVID-19 patients as a first-line treatment without the need for compromising the treatment of comorbidities, while suggesting cautiousness when administering corticosteroids.

A homozygous variant in ABCA3 is associated with severe respiratory distress and early neonatal death

2021 ◽  
Author(s):  
Montaha Al‐Iede ◽  
Mariam Khanfar ◽  
Luma Srour ◽  
Raja Rabah ◽  
Mousa Al‐Abbadi ◽  
...  
Keyword(s):  
Respiratory Distress ◽  
Neonatal Death ◽  
Early Neonatal Death ◽  
Severe Respiratory Distress ◽  
Homozygous Variant

Rash and Mucositis Associated With Mycoplasma pneumoniae and Chlamydophila pneumoniae: A Recurrence of MIRM?

2020 ◽  
Author(s):  
Danielle Brazel ◽  
Brooke Kulp ◽  
Geoanna Bautista ◽  
Andrew Bonwit
Keyword(s):  
Mycoplasma Pneumoniae ◽  
Treatment Options ◽  
Specific Treatment ◽  
Corticosteroid Treatment ◽  
Stevens Johnson Syndrome ◽  
First Case ◽  
Johnson Syndrome ◽  
Vesicular Rash ◽  
Recurrent Aphthous Ulcers ◽  
Definition Of

Abstract Introduction A new concept has come to light recently, that is, Mycoplasma-induced rash and mucositis (MIRM). Here, we report the first case of recurrent rash, mucositis, and conjunctivitis involving Mycoplasma pneumoniae and C. pneumoniae that fits under the criteria of what is currently defined as MIRM. Case Presentation A patient aged 12 years with a history of recurrent aphthous ulcers presented in 2013 with worsening oral lesions, conjunctivitis, and vesicular rash. Her respiratory polymerase chain reaction (PCR) panel was positive for M. pneumoniae. She was diagnosed with Stevens-Johnson syndrome (SJS) secondary to M. pneumoniae and treated with a macrolide, acyclovir, and intravenous immunoglobulin (IVIG). The same patient returned 3 years later with an identical constellation of symptoms, at which time her PCR was positive for C. pneumoniae. In addition to IVIG and a macrolide, a corticosteroid treatment was administered. Discussion Here, we present the case of a pediatric patient with a recurrence of mucocutaneous disease that is more consistent with MIRM than the proposed SJS or erythema multiforme (EM) documented via histology. Our patient’s symptoms were controlled with azithromycin and IVIG and, in the second episode, with corticosteroids as well. This case adds to that of Mayor-Ibarguren et al, providing further evidence that C. pneumonia may also be a trigger for MIRM. Patients will benefit from expanding the definition of MIRM, as the pathogenesis differs from SJS and EM and could result in more specific treatment options.

scholarly journals Cellular and mitochondrial mechanisms of atrial fibrillation

2020 ◽  
Vol 115 (6) ◽  
Author(s):  
Fleur E. Mason ◽  
Julius Ryan D. Pronto ◽  
Khaled Alhussini ◽  
Christoph Maack ◽  
Niels Voigt
Keyword(s):  
Atrial Fibrillation ◽  
Nicotinamide Adenine Dinucleotide ◽  
Molecular Mechanisms ◽  
Treatment Options ◽  
Specific Treatment ◽  
Nicotinamide Adenine Dinucleotide Phosphate ◽  
Nicotinamide Adenine ◽  
Mitochondrial Activity ◽  
Atp Production

AbstractThe molecular mechanisms underlying atrial fibrillation (AF), the most common form of arrhythmia, are poorly understood and therefore target-specific treatment options remain an unmet clinical need. Excitation–contraction coupling in cardiac myocytes requires high amounts of adenosine triphosphate (ATP), which is replenished by oxidative phosphorylation in mitochondria. Calcium (Ca2+) is a key regulator of mitochondrial function by stimulating the Krebs cycle, which produces nicotinamide adenine dinucleotide for ATP production at the electron transport chain and nicotinamide adenine dinucleotide phosphate for the elimination of reactive oxygen species (ROS). While it is now well established that mitochondrial dysfunction plays an important role in the pathophysiology of heart failure, this has been less investigated in atrial myocytes in AF. Considering the high prevalence of AF, investigating the role of mitochondria in this disease may guide the path towards new therapeutic targets. In this review, we discuss the importance of mitochondrial Ca2+ handling in regulating ATP production and mitochondrial ROS emission and how alterations, particularly in these aspects of mitochondrial activity, may play a role in AF. In addition to describing research advances, we highlight areas in which further studies are required to elucidate the role of mitochondria in AF.

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