scholarly journals Two Case Reports of Chorea-acanthocytosis and Review of Literature

2021 ◽  
Author(s):  
Shuangfeng Huang ◽  
Junliang Zhang ◽  
Manli Tao ◽  
Yaodong Lv ◽  
Luyao Xu ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Case Reports ◽  
Clinical Manifestations ◽  
Symptomatic Treatment ◽  
Final Diagnosis ◽  
Case Presentation ◽  
Neuropathological Diagnosis ◽  
Vacuolar Protein ◽  
The Impact

Abstract Background: Chorea-acanthocytosis (ChAc), as the most common subtype of neuroacanthocytosis syndrome, is characterized by the presence of acanthocytes and neurological symptoms. It is thought to be caused by the VPS13A (vacuolar protein sorting-associated protein 13A) mutations. This article reports two confirmed cases of ChAc and summarizes some suggestive features, which provide direction for the diagnosis and treatment of acanthocytosis in the future.Case presentation: Here, we present two cases of ChAc diagnosed based on typical clinical symptoms, neuroimaging features, genetic findings of VPS13A, and response to the symptomatic treatment. Conclusions: Chorea-acanthocytosis is a rare neurodegenerative disease with various early clinical manifestations. The final diagnosis of the ChAc can be established by either genetic analysis or protein expression by Western blotting. Supportive treatments and nursing are helpful to improve the quality of the patient’s life. Nevertheless, it is imperative to investigate the impact of neuroimaging and neuropathological diagnosis in a larger group of ChAc in future studies.

Case report: a case of primary pulmonary glomus tumor

2020 ◽  
Author(s):  
shuangshuang Deng ◽  
Jianhao Huang ◽  
Qi Yin ◽  
Jinli Gao ◽  
Feilong Wang ◽  
...  
Keyword(s):  
Tumor Recurrence ◽  
Glomus Tumor ◽  
Clinical Symptoms ◽  
Clinical Manifestations ◽  
Final Diagnosis ◽  
Case Presentation ◽  
Glomus Tumors ◽  
Disease Case ◽  
The Right

Abstract Background Glomus tumors, as extremely rare tumors of the lung, since their rarity and the variety of the clinical symptoms, tend to be misdiagnosed. The location of these tumors as well as their early diagnosis is a pivot for the prognosis of the disease. Case presentation We report a case of old patient whose final diagnosis was primary pulmonary glomus tumor. She initially was found a nodule in the right lung, which was enlarged during follow-up and finally confirmed after surgery. Postoperative pathology was considered as a primary pulmonary glomus tumor. There has been no evidence of tumor recurrence or metastasis so far. Conclusion Primary pulmonary glomus tumor is rare. The clinical manifestations are related symptoms occupying lesions in the lung. The diagnosis of the tumor depends on histopathology and immunohistochemistry. Surgical resection is considered as the most effective treatment for this condition.

scholarly journals Chilaiditi Syndrome: A Case Report Highlighting the Intermittent Nature of the Disease

2018 ◽  
Vol 2018 ◽  
pp. 1-3 ◽  
Author(s):  
Esha M. Kapania ◽  
Christina Link ◽  
Joshua M. Eberhardt
Keyword(s):  
Case Report ◽  
Complete Resolution ◽  
Clinical Symptoms ◽  
Case Reports ◽  
Delayed Diagnosis ◽  
Spontaneous Resolution ◽  
Radiographic Evidence ◽  
Case Presentation ◽  
Chilaiditi Syndrome

Background. Chilaiditi syndrome is a phenomenon where there is an interposition of the colon between the liver and the abdominal wall leading to clinical symptoms. This is distinct from Chilaiditi sign for which there is radiographic evidence of the interposition, but is asymptomatic. Case Presentation. Here, we present the case of a patient who, despite having clinical symptoms for a decade, had a delayed diagnosis presumably due to the interposition being intermittent and episodic. Conclusions. This case highlights the fact that Chilaiditi syndrome may be intermittent and episodic in nature. This raises an interesting question of whether previous case reports, which describe complete resolution of the syndrome after nonsurgical intervention, are perhaps just capturing periods of resolution that may have occurred spontaneously. Because the syndrome may be intermittent with spontaneous resolution and then recurrence, patients should have episodic follow-up after nonsurgical intervention.

scholarly journals Assessment of quality of life in transfusion dependent thalassemic children - need to address parents/care givers

2020 ◽  
Vol 8 (1) ◽  
pp. 147
Author(s):  
Veeraraja B. Sathenahalli ◽  
G. R. Rajashekar Murthy ◽  
Netra Gouda ◽  
Sanjay K. Shivanna
Keyword(s):  
Quality Of Life ◽  
Psychosocial Functioning ◽  
Clinical Manifestations ◽  
Well Being ◽  
School Functioning ◽  
Psychosocial Burden ◽  
Globin Chains ◽  
Care Givers ◽  
The Impact

Background: Thalassemia is an autosomal recessive congenital disease caused by the reduced or absent beta globin chain synthesis of hemoglobin tetramer. The degree of imbalance between alpha and non alpha globin chains determines the severity of clinical manifestations. The disabling nature of the disease and chronic therapy affects the normal life causing psychosocial burden. Overall patient’s life, such as education, free-time, physical activities, skills, capabilities, and family adjustment is affected. The effects of which often result in psychological, emotional and social compromise. Health-Related Quality of Life (HRQoL) measurement is a multidimensional concept that focuses on the impact of the disease and its treatment on the well being of an individual.Methods: A descriptive observational hospital based study was conducted over a period of 3 months. Transfusion dependency in thalassemic children aged between 5 years and 18 years was the inclusion criteria. Thalassemic children having debilitating illnesses unrelated to thalassemia were excluded. Quality of life was assessed using Pediatric Quality of Life Inventory (PedsQL™ 4.0)4. The tool assesses the quality of life in five domains: physical functioning (PF: 8 items), psychosocial functioning (sum of emotional, social and school functioning), emotional functioning (EF: 5 items), social functioning (SF: 5 items) and school functioning (SC: 5 items).Results: Total of 125 children were enrolled with a mean age of 9.4±4.6 years (age range 5-18 yrs). According to the PedsQL questionnaire, the quality of life was similarly assessed by both parents and children. The total mean QoL score of the parents was 72.36±11.47 and of the children was 77.63±14.17. Emotional, school and psycho-social function were significantly affected according to both child and parents without statistical significance.Conclusions: Thalassaemia patients and their parents require lifelong psychological support for prevention of mental health issues. By increasing the awareness and knowledge levels of the parents, we can help sick children in developing countries to get the best care locally and to thus improve HRQoL.

scholarly journals Slaying little dragons: the impact of the Guinea Worm Eradication Program on dracunculiasis disability averted from 1990 to 2016

2018 ◽  
Vol 2 ◽  
pp. 30 ◽  
Author(s):  
Elizabeth A. Cromwell ◽  
Sharon Roy ◽  
Dieudonne P. Sankara ◽  
Adam Weiss ◽  
Jeffrey Stanaway ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Case Reports ◽  
Annual Number ◽  
Infection Prevalence ◽  
Eradication Program ◽  
Guinea Worm ◽  
Disability Weights ◽  
Life Years ◽  
Disease Study ◽  
The Impact

Background:The objective of this study was to document the worldwide decline of dracunculiasis (Guinea worm disease, GWD) burden, expressed as disability-adjusted life years (DALYs), from 1990 to 2016, as estimated in the Global Burden of Disease study 2016 (GBD 2016). While the annual number of cases of GWD have been consistently reported by WHO since the 1990s, the burden of disability due to GWD has not previously been quantified in GBD.Methods:The incidence of GWD was modeled for each endemic country using annual national case reports. A literature search was conducted to characterize the presentation of GWD, translate the clinical symptoms into health sequelae, and then assign an average duration to the infection. Prevalence measures by sequelae were multiplied by disability weights to estimate DALYs.Results:The total DALYs attributed to GWD across all endemic countries (n=21) in 1990 was 50,725 (95% UI: 35,265–69,197) and decreased to 0.9 (95% UI: 0.5–1.4) in 2016. A cumulative total of 12,900 DALYs were attributable to GWD from 1990 to 2016.Conclusions:Using 1990 estimates of burden propagated forward, this analysis suggests that between 990,000 to 1.9 million DALYs have been averted as a result of the eradication program over the past 27 years.

scholarly journals Mechanism, Prevention, and Treatment of Radiation-Induced Salivary Gland Injury Related to Oxidative Stress

Antioxidants ◽  
2021 ◽  
Vol 10 (11) ◽  
pp. 1666
Author(s):  
Zijing Liu ◽  
Lihua Dong ◽  
Zhuangzhuang Zheng ◽  
Shiyu Liu ◽  
Shouliang Gong ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Head And Neck ◽  
Clinical Symptoms ◽  
Clinical Manifestations ◽  
Serious Adverse Event ◽  
Oral Infections ◽  
Normal Tissues ◽  
Radiation Induced ◽  
Swallowing Muscles

Radiation therapy is a common treatment for head and neck cancers. However, because of the presence of nerve structures (brain stem, spinal cord, and brachial plexus), salivary glands (SGs), mucous membranes, and swallowing muscles in the head and neck regions, radiotherapy inevitably causes damage to these normal tissues. Among them, SG injury is a serious adverse event, and its clinical manifestations include changes in taste, difficulty chewing and swallowing, oral infections, and dental caries. These clinical symptoms seriously reduce a patient’s quality of life. Therefore, it is important to clarify the mechanism of SG injury caused by radiotherapy. Although the mechanism of radiation-induced SG injury has not yet been determined, recent studies have shown that the mechanisms of calcium signaling, microvascular injury, cellular senescence, and apoptosis are closely related to oxidative stress. In this article, we review the mechanism by which radiotherapy causes oxidative stress and damages the SGs. In addition, we discuss effective methods to prevent and treat radiation-induced SG damage.

scholarly journals Introducing a New Feature to Allergy and Rhinology

2014 ◽  
Vol 5 (1) ◽  
pp. 215265671400500
Keyword(s):  
Case Reports ◽  
Short Review ◽  
Final Diagnosis ◽  
Open Access Journal ◽  
Original Research ◽  
Tissue Samples ◽  
Case Presentation ◽  
New Type ◽  
New Feature ◽  
Case Data

In this issue of Allergy and Rhinology, we are pleased to introduce a new type of article, “Pathology Quiz Case,” to complement the original research articles, case reports, and reviews that we currently publish. This special submission should consist of a case presentation that includes the following elements – 1) patient history, exam and initial case data, 2) pathological description of tissue samples, 3) differential diagnosis, 4) final diagnosis, and 5) a short review of the disease entity and the patient course. This feature should be educational for all trainees and practicing otolaryngologists. In particular, we welcome medical student, resident, and fellow submissions from otolaryngology training programs. Allergy and Rhinology is an open access journal cited in PubMed.

scholarly journals Splenomegaly impacts prognosis in essential thrombocythemia and polycythemia vera: A single center study

2019 ◽  
Vol 11 (4) ◽  
Author(s):  
Vincenzo Accurso ◽  
Marco Santoro ◽  
Simona Raso ◽  
Angelo Davide Contrino ◽  
Paolo Casimiro ◽  
...  
Keyword(s):  
Polycythemia Vera ◽  
Essential Thrombocythemia ◽  
Myeloproliferative Neoplasms ◽  
Clinical Manifestations ◽  
Primary Myelofibrosis ◽  
Thrombotic Risk ◽  
Single Center Study ◽  
The Impact ◽  
The Relationship

Splenomegaly is one of the major clinical manifestations of primary myelofibrosis and is common also in other chronic Philadelphia-negative myeloproliferative neoplasms, causing symptoms and signs and affecting quality of life of patients diagnosed with these diseases. We aimed to study the impact that such alteration has on thrombotic risk and on the survival of patients with essential thrombocythemia and patients with Polycythemia Vera (PV). We studied the relationship between splenomegaly (and its grade), thrombosis and survival in 238 patients with et and 165 patients with PV followed at our center between January 1997 and May 2019.

The impact of tuberculosis and chemotherapy on female reproductive health

2016 ◽  
Vol 88 (11) ◽  
pp. 168-171
Author(s):  
S I Kayukova
Keyword(s):  
Clinical Symptoms ◽  
Reproductive Function ◽  
Active Tuberculosis ◽  
Reproductive Disorders ◽  
Female Reproductive Health ◽  
Concise Review ◽  
Reproductive Aged Women ◽  
The Impact

The paper outlines a concise review of Russian and foreign literature on the specific features of the course of respiratory tuberculosis in reproductive-aged women. It shows the impact of active tuberculosis and massive chemotherapy on the reproductive system, analyzes clinical symptoms, immediate and long-term consequences, and prognosis of future reproductive function. The timely diagnosis and optimal correction of reproductive disorders in women with respiratory tuberculosis can improve their quality of life, fertile capacities, and birth of a successive healthy offspring

scholarly journals No More Pain in the Gut: Lifestyle Medicine Approach to Irritable Bowel Syndrome

2017 ◽  
Vol 11 (3) ◽  
pp. 223-226
Author(s):  
Tereza Hubkova
Keyword(s):  
Quality Of Life ◽  
Nervous System ◽  
Irritable Bowel Syndrome ◽  
Autonomic Nervous System ◽  
Negative Impact ◽  
Symptomatic Treatment ◽  
Lifestyle Medicine ◽  
Case Presentation ◽  
Irritable Bowel

Irritable bowel syndrome has often underestimated negative impact of quality of life. Traditional symptomatic treatment does not address underlying complex etiology. Superior results might be achieved with combination of lifestyle medicine, correction of underlying microbial imbalances and retraining of autonomic nervous system as demonstrated in this case presentation.

scholarly journals COVID-19 infection and cardiac angiosarcoma: a dangerous combination—a case report

2021 ◽  
Vol 29 (1) ◽  
Author(s):  
Santiago A. Endara ◽  
Gerardo A. Dávalos ◽  
Gabriel A. Molina ◽  
Aldo B. Zavala ◽  
Patricia M. Ponton ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Delayed Diagnosis ◽  
Clinical Manifestations ◽  
Adverse Outcomes ◽  
Medical Systems ◽  
Poor Survival ◽  
Case Presentation ◽  
Local Invasion ◽  
Cardiac Angiosarcoma ◽  
Clinical Awareness

Abstract Background The COVID-19 pandemic has strained all medical systems, especially in countries like Ecuador, where health services were already limited. These conditions, combined with a deadly and unusual disease, like primary heart angiosarcoma, can lead to severe outcomes. Angiosarcomas represent the most common and aggressive primary malignant heart tumor; regretfully, its clinical manifestations are vague and can be easily missed. Most patients become symptomatic when there is local invasion, embolization, or metastases, leading to late diagnosis and poor survival. High clinical awareness, adequate diagnosis, and prompt treatment are vital in these rare diseases, in which time is of paramount importance. Case presentation We report the case of a 28-year-old female who had cough, hemoptysis, and ground-glass opacities in the CT (computed tomography). Since Ecuador is in the middle of this pandemic, she was misdiagnosed and mistreated. Primary heart angiosarcoma was diagnosed, and regretfully, the patient suffered multiple complications due to diagnosis and died. Conclusion To this day, most cardiac angiosarcomas are found in a late-stage with distal metastasis and advanced local invasion. Sadly, this tumor is frequently missed due to its incidence and broad-spectrum of clinical symptoms. Considering that its manifestations can be misleading, misdiagnosis can occur, especially in pandemic times. Therefore, knowledge of other pathologies prevents COVID-19 from overshadowing other diagnoses, hence preventing delayed diagnosis or even misdiagnosis and consequent adverse outcomes for patients.

Sign in / Sign up

Export Citation Format

Share Document