scholarly journals Porphyrias in the Age of Targeted Therapies

Diagnostics ◽  
2021 ◽  
Vol 11 (10) ◽  
pp. 1795
Author(s):  
Angelika L. Erwin ◽  
Manisha Balwani
Keyword(s):  
Biosynthetic Pathway ◽  
Genetic Disorders ◽  
Clinical Manifestations ◽  
Symptomatic Treatment ◽  
Cellular Level ◽  
New Treatment ◽  
Tissue Site ◽  
Underlying Pathophysiology

The porphyrias are a group of eight rare genetic disorders, each caused by the deficiency of one of the enzymes in the heme biosynthetic pathway, resulting in the excess accumulation of heme precursors and porphyrins. Depending on the tissue site as well as the chemical characteristics of the accumulating substances, the clinical features of different porphyrias vary substantially. Heme precursors are neurotoxic, and their accumulation results in acute hepatic porphyria, while porphyrins are photoactive, and excess amounts cause cutaneous porphyrias, which present with photosensitivity. These disorders are clinically heterogeneous but can result in severe clinical manifestations, long-term complications and a significantly diminished quality of life. Medical management consists mostly of the avoidance of triggering factors and symptomatic treatment. With an improved understanding of the underlying pathophysiology and disease mechanisms, new treatment approaches have become available, which address the underlying defects at a molecular or cellular level, and promise significant improvement, symptom prevention and more effective treatment of acute and chronic disease manifestations.

Neurologic Complications in Patients with Cancer

2021 ◽  
Vol 41 (05) ◽  
pp. 588-605
Author(s):  
Kathryn B. Holroyd ◽  
Daniel B. Rubin ◽  
Henrikas Vaitkevicius
Keyword(s):  
Functional Outcomes ◽  
Malignant Lesion ◽  
Neurologic Complications ◽  
Systemic Complications ◽  
Neurologic Symptoms ◽  
Patients With Cancer ◽  
Mechanistic Approach ◽  
Underlying Pathophysiology

AbstractNeurologic symptoms are commonly seen in patients with cancer and can be among the most challenging to diagnose and manage. It is often difficult to determine if new neurologic symptoms are secondary to direct effects of a malignant lesion, systemic complications of disease, paraneoplastic disorders, or side effects of cancer treatment itself. However, early diagnosis and treatment of each of these conditions can improve patients' quality of life and long-term functional outcomes. In this review, we describe a systematic approach to the diagnosis of new neurologic symptoms in patients with known malignancy. We have categorized the neurologic complications of cancer through a mechanistic approach, with an emphasis on ascertaining underlying pathophysiology to guide treatment choice. This review focuses on the acute neurologic complications of cancer that require hospital admission.

scholarly journals Nerve Grafting is a New Treatment Option for Stroke Patients

2017 ◽  
Vol 3 (4) ◽  
pp. 185-187
Author(s):  
Shaocheng Zhang
Keyword(s):  
New England ◽  
Hand Surgery ◽  
Upper Limbs ◽  
Medical Problems ◽  
Unaffected Side ◽  
Spastic Paralysis ◽  
New Treatment ◽  
Great Burden

Recently, New England Journal of Medicine published an article by the famous hand surgery specialists, Yudong Gu. The important medical achievements of Gu's team include transposition of C7 nerve root of the unaffected side on the upper limbs in stroke hemiplegia, changing the brain central dominance region, and rebuilding the function of hands with spastic paralysis. These achievements are admirable because worldwide medical problems, such as stroke sequela hemiplegia, require long-term arduous efforts for any progress to be made. Any result that improves the survival quality of patients has significant social value. Their success has enabled me to feel that I am no longer alone in my years of exploration, and I am grateful to them from the bottom of my heart. At this time, I am reminded of the 40 years of my experience in this field. It has taken the efforts of many people to make this happen: Limb sequelae of stroke, especially spasmodic paralysis of upper limbs, often result in patients losing their ability to self-care, which can cause a great burden to their family and society. The need to rebuild and improve functions in such patients is urgent.

Left renal vein stenting: indications, disputable points, immediate and long-term results

2021 ◽  
Vol 22 (1) ◽  
pp. 28-37
Author(s):  
A. Е. Vasiliev ◽  
О. В. Zhukov ◽  
V. Е. Sinitsyn ◽  
A. N. Sulima
Keyword(s):  
Renal Vein ◽  
Left Renal Vein ◽  
Clinical Manifestations ◽  
Long Term Results ◽  
Technical Performance ◽  
Significant Compression

The article presents the results of stenting of the left renal vein in 35 patients with proven hemodynamically significant compression of the vein in “aorto-mesenteric tweezers”. Clinical manifestations of lesions of the left renal vein are very diverse, and pathogenetic mechanisms remain not fully understood. Therefore, the determination of indications for stenting and perfect technical performance are predictors of success in the near and long-term periods of postoperative follow-up. Our experience in stenting the left renal vein demonstrates the possibility of achieving intraoperative technical success in 100 % of cases, as well as a significant improvement in the quality of life in most patients after endovascular intervention, due to a significant reduction in the clinical manifestations of the pathological phenomenon. 

scholarly journals CTNI-28. A PROSPECTIVE, OBSERVATIONAL STUDY EVALUATING THE SAFETY AND QUALITY OF LIFE OF TUMOR TREATING FIELDS IN CHINESE GLIOBLASTOMA PATIENTS

2020 ◽  
Vol 22 (Supplement_2) ◽  
pp. ii48-ii48
Author(s):  
Kevin Wong ◽  
Tao Jiang
Keyword(s):  
Quality Of Life ◽  
Adverse Reactions ◽  
Clinical Manifestations ◽  
Treatment Compliance ◽  
Symptomatic Treatment ◽  
Chinese Patients ◽  
Published Data ◽  
Newly Diagnosed ◽  
Tumor Treating Fields

Abstract OBJECTIVES Glioblastoma (GBM) is the most common and aggressive primary brain tumor with a median survival of 15 months. Adding Tumor Treating Fields (TTFields) to first-line therapy in GBM demonstrated improved survival in the EF-14 trial. This prospective study was designed to investigate the safety and effect on QoL of TTFields in Chinese patients with GBM. METHODS A total of 44 patients (29 newly diagnosed GBM, 15 recurrent GBM, median age 51.0 [24.0 - 81.0] years) who underwent TTFields following surgery, concurrent chemoradiotherapy were enrolled into the study. The primary endpoint was the incidence of TTFields-related skin adverse events; the secondary endpoint included quality of life (QoL), treatment adherence. RESULTS Of the 44 patients followed up for at least 3 months, 24 (54.5%) had skin adverse reactions, all of which were grade 1–2. Median time to skin AE was 1.2 months. The common skin AE were dermatitis (53.8%), ulcer (19.2%), infection (19.2%), and most of them could be resolved by symptomatic treatment (topical corticosteroid/antibiotics). In terms of QoL, noticeable improvement in overall health and clinical manifestations such as fatigue, nausea and vomiting were observed. The overall average treatment compliance was 91%: compliance (mean±SD), in newly diagnosed patients, 0.89±0.14, median 0.91; in recurrent patients, 0.86±0.13, median 0.93. CONCLUSIONS The incidence of skin adverse reactions (which could be effectively alleviated with treatment) in GBM patients treated with TTFields was acceptable. From our short follow up, TTFields appear to improve QoL and compliance in Chinese patients comparable to published data.

scholarly journals Is Tolerance Broken in Autoimmunity?

2017 ◽  
Vol 10 ◽  
pp. 117955571771271
Author(s):  
Dama Laxminarayana
Keyword(s):  
Autoimmune Diseases ◽  
Molecular Mechanisms ◽  
Clinical Manifestations ◽  
Symptomatic Treatment ◽  
Cellular Events ◽  
Life Threatening ◽  
Benign Disorders ◽  
Autoimmune Pathogenesis ◽  
System Organ

Autoimmune diseases are classified into about 80 different types based on their specificity related to system, organ and/or tissue. About 5% of the western population is affected by this anomaly, but its worldwide incidence is unknown. Autoimmune diseases are heterogeneous in nature and clinical manifestations range from benign disorders to life-threatening conditions. Autoimmunity strikes at any stage of life, but age and/or gender also play role in onset of some of these anomalies. The autoimmune pathogenesis is initiated by the origination of autoantigens, which leads to the development of autoantibodies followed by auto-immunogenicity and the ultimate onset of autoimmunity. There is a lack of suitable therapies to treat autoimmune diseases, because mechanisms involved in the onset of these anomalies were poorly understood. Present therapies are limited to symptomatic treatment and come with severe side effects. Here, I described the molecular mechanisms and cellular events involved in the initiation of autoimmunity and proposed better strategies to modulate such molecular and cellular anomalies, which will help in preventing and/or controlling autoimmune pathogenesis and ultimately aid in enhancing the quality of life.

Pine processionary caterpillar Thaumetopoea pityocampa envenomation in 11 cats: a retrospective study

2017 ◽  
Vol 20 (8) ◽  
pp. 685-689 ◽  
Author(s):  
Céline Pouzot-Nevoret ◽  
Maxime Cambournac ◽  
Amandine Violé ◽  
Isabelle Goy-Thollot ◽  
Gilles Bourdoiseau ◽  
...  
Keyword(s):  
Clinical Signs ◽  
Clinical Manifestations ◽  
Thaumetopoea Pityocampa ◽  
Pine Processionary Moth ◽  
Processionary Moth ◽  
Pine Processionary Caterpillar ◽  
Long Term Follow Up

Objectives The aim of this study was to describe the clinical manifestations in cats of contact with caterpillars of the pine processionary moth. Methods Data were retrospectively obtained from the medical records (2004–2016) of cats that had been in contact with caterpillars of the pine processionary moth. Results Eleven cats were included in the study. The prevalence of lepidopterism was 0.13%. Tongue lesions and ptyalism were both present in 10/11 (91%) cats. Systemic signs consisted exclusively of vomiting and were encountered in 4/11 (36%) cats. The survival rate was 100%. Long-term follow-up data were available for 7/11 cats, and none of the cats showed impaired quality of life or definitive sequelae. Conclusions and relevance The clinical presentation of lepidopterism in cats appears to be similar to that in other animals; however, the clinical signs are less severe than those previously reported, mainly owing to the cautious behaviour of this species. Moreover, the prognosis is excellent, the length of hospitalisation is short (maximum 48 h) and our study showed the absence of any long-term disability after hospital discharge.

scholarly journals Abdominal pain syndrome and quality of life in patients with cholelithiasis after cholecystectomy during a 10-year follow-up

2017 ◽  
Vol 89 (2) ◽  
pp. 70-75
Author(s):  
Yu V Makarovа ◽  
N V Litvinova ◽  
M F Osipenko ◽  
N B Voloshina
Keyword(s):  
Quality Of Life ◽  
Abdominal Pain ◽  
Time Course ◽  
Clinical Manifestations ◽  
Pain Syndrome ◽  
Assess Quality ◽  
Group 1

Aim. To estimate the incidence of abdominal pain syndrome (APS) and to assess quality of life (QOL) in patients within 10 years after cholecystectomy (CE). Subjects and methods. This investigation is part of a long-term prospective follow-up study of patients after CE for cholelithiasis (CL). It enrolled 145 people: 30 (21.5%) patients with baseline asymptomatic CL and 115 (80.7%) with its clinical manifestations. The time course of changes in APS and QOL were analyzed. Results. Over 10 years, all the patients showed a decrease in the incidence of APS from 84.1% (n=95) to 66.4% (n=75; p=0.004). In Group 1 (n=89), APS was at baseline detected in all the patients; 10 years later, its incidence declined to 67.4% (n=60; p < 0.001). Biliary pains were predominant; these had been identified significantly less frequently over the 10-year period in 47 (52.8%) patients; p

scholarly journals Oxidative Stress-Related Mechanisms in Schizophrenia Pathogenesis and New Treatment Perspectives

2021 ◽  
Vol 2021 ◽  
pp. 1-37
Author(s):  
Evgeny A. Ermakov ◽  
Elena M. Dmitrieva ◽  
Daria A. Parshukova ◽  
Daria V. Kazantseva ◽  
Alisa R. Vasilieva ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Neuronal Development ◽  
Clinical Manifestations ◽  
Cellular Level ◽  
Transcriptional Factors ◽  
Great Promise ◽  
Redox Imbalance ◽  
New Treatment ◽  
And Function ◽  
Glutathione Deficiency

Schizophrenia is recognized to be a highly heterogeneous disease at various levels, from genetics to clinical manifestations and treatment sensitivity. This heterogeneity is also reflected in the variety of oxidative stress-related mechanisms contributing to the phenotypic realization and manifestation of schizophrenia. At the molecular level, these mechanisms are supposed to include genetic causes that increase the susceptibility of individuals to oxidative stress and lead to gene expression dysregulation caused by abnormal regulation of redox-sensitive transcriptional factors, noncoding RNAs, and epigenetic mechanisms favored by environmental insults. These changes form the basis of the prooxidant state and lead to altered redox signaling related to glutathione deficiency and impaired expression and function of redox-sensitive transcriptional factors (Nrf2, NF-κB, FoxO, etc.). At the cellular level, these changes lead to mitochondrial dysfunction and metabolic abnormalities that contribute to aberrant neuronal development, abnormal myelination, neurotransmitter anomalies, and dysfunction of parvalbumin-positive interneurons. Immune dysfunction also contributes to redox imbalance. At the whole-organism level, all these mechanisms ultimately contribute to the manifestation and development of schizophrenia. In this review, we consider oxidative stress-related mechanisms and new treatment perspectives associated with the correction of redox imbalance in schizophrenia. We suggest that not only antioxidants but also redox-regulated transcription factor-targeting drugs (including Nrf2 and FoxO activators or NF-κB inhibitors) have great promise in schizophrenia. But it is necessary to develop the stratification criteria of schizophrenia patients based on oxidative stress-related markers for the administration of redox-correcting treatment.

scholarly journals Experience in treatment of diaphragm hernias

2020 ◽  
Vol 39 (3) ◽  
pp. 32-39
Author(s):  
Petr N. Zubarev ◽  
Aleksey V. Khokhlov ◽  
Igor E. Onnitsev ◽  
Vladislav M. Trofimov ◽  
Valeriy L. Belevich ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
General Surgery ◽  
Clinical Manifestations ◽  
Military Medical Academy ◽  
Medical Academy ◽  
Laparoscopic Techniques ◽  
The Military ◽  
Positive Effect

Hernias of the diaphragm are a common pathology that negatively affects the quality of life of patients and in some cases requires high-quality surgical correction. This pathology has a progressive course, which leads to an increase in the severity of clinical manifestations with the age of the patient. The article presents the experience of surgical treatment of hernias of the diaphragm on the basis of general surgery clinics of the military medical academy. The aim of the study is to determine the effectiveness of surgical treatment of hernias of the diaphragm in different categories of patients. The total number of treated patients was 216. All patients were operated on. Thirty-four patients underwent a sympultal laparoscopic cholecystectomy. The operation used laparoscopic access. The closest excellent and good results of clinical treatment occurred in 92% of cases, satisfactory and unsatisfactory results accounted for 5.4 and 2.7%, respectively. According to the results of the instrumental survey, 40.6 and 54%, respectively, achieved excellent and good results; Satisfactory and unsatisfactory 2.7 and 2.7%. The introduction of laparoscopic techniques in surgery has reduced the number of early and late post-operative complications in the treatment of hernias of the diaphragm. The recommendations of the American Association of Endoscopic Surgeons for the operational treatment of gastroesophageal reflux disease shows the positive effect of laparoscopic fundoplications in 8593% of patients whose medicinal therapy has proved ineffective. In general, the results of the immediate and long-term outcomes of the surgical treatment of hernias of the diaphragm at the General Surgery Clinic of Military Medical Academy showed similar results (8 figs, bibliography: 16 refs).

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