scholarly journals Canavan Disease - A Rare Case Report

2021 ◽  
Vol 6 (4) ◽  
pp. 348-350
Author(s):  
Zahoor Hussain Daraz ◽  
Berkheez Shabir ◽  
Rehana Afshan
Keyword(s):  
Jewish Population ◽  
Canavan Disease ◽  
Autosomal Recessive Disorder ◽  
Premature Death ◽  
Experimental Models ◽  
Psychomotor Retardation ◽  
Early Gene ◽  
Rare Case Report ◽  
Lithium Citrate

Canavan disease is a rare autosomal recessive disorder characterized by progressive leukodystrophy involving white matter of the brain. Disease leads to severe psychomotor retardation, seizures and premature death. More prevalent among Jewish population. Among non-Jewish population incidence is approximately 1:100000. Prognosis is guarded with current management only symptomatic and supportive. There is no effective treatment, however early gene therapy has improved the quality of life of patients. Furthermore, Lithium citrate has also shown certain positive results in experimental models using rats. Even few human studies have also been done, however promising results require larger controlled trials. Keywords: MRI: Magnetic Resonance and Imaging, EEG: Electro Encephalogram, CD: Canavan Disease, ASPA: acetyl aspartate, LUCS: Lower Uterine Cesarean Section, OFC: Occipito Frontal Circumference, NAA: N-acetyl aspartate

Evaluation of medical care for Diabetic and Hypertensive patients in primary care in Mexico: Observational retrospective study (Preprint)

2020 ◽  
Author(s):  
Agustin Lara-Esqueda ◽  
Sergio A Zaizar-Fregoso ◽  
Violeta M Madrigal-Perez ◽  
Mario Ramirez-Flores ◽  
Daniel A Montes-Galindo ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Medical Care ◽  
Serum Lipids ◽  
Quality Care ◽  
Premature Death ◽  
Current Standard ◽  
Anonymized Data ◽  
Quality Of Medical Care

BACKGROUND Diabetes Mellitus is a worldwide health problem and the leading cause of premature death with increasing prevalence over time. Usually, along with it, Hypertension presents and acts as another risk factor that increases mortality risk. Both diseases impact the country's health while also producing an economic burden for society, causing billions of dollars to be invested in their management. OBJECTIVE The present study evaluated the quality of medical care for patients diagnosed with diabetes mellitus (DM), hypertension (HBP), and both pathologies (DM+HBP) within a public health system in Mexico, according to the official Mexican standard for each pathology. METHODS 45,498 patients were included from 2012 to 2015. All information was taken from the electronic medical records database, exported as anonymized data for research purposes. Each patient record was compared against the standard to test the quality of medical care. RESULTS Glycemia with hypertension goals reached 29.6% in DM+HBP, 48.6% in DM, and 53.2% in HBP. The goals of serum lipids were reached by 3% in DM+HBP, 5% in DM, and 0.2% in HBP. Glycemia, hypertension, and LDL cholesterol reached 0.04%. 15% of patients had an undiagnosed disease of diabetes or hypertension. Clinical follow-up examinations reached 20% for foot examination and clinical eye examination in the whole population. Specialty referral reached 1% in angiology or cardiology in the whole population. CONCLUSIONS Goals for glycemic and hypertension reached 50% in the overall population, while serum lipids, clinical follow-up examinations, and referral to a specialist were deficient. Patients who had both diseases had more consultations, better control for hypertension and lipids, but inferior glycemic control. Overall, quality care for DM and/or HBP has not been met according to the standards. While patients with DM and HBP do not have a current standard to evaluate their own needs.

Experimental models for controlled burn injuries in rats: a systematic analysis of original methods and burn devices

2021 ◽  
Author(s):  
Stefan Morarasu ◽  
Bianca-Codrina Morarasu ◽  
Nicolae Ghețu ◽  
Mihail-Gabriel Dimofte ◽  
Radu Iliescu ◽  
...  
Keyword(s):  
Final Analysis ◽  
Experimental Models ◽  
Burn Injuries ◽  
Systematic Analysis ◽  
Experimental Burn ◽  
Controlled Burn ◽  
Histological Confirmation ◽  
The Right ◽  
Burn Depth

Abstract AIM Despite a wide variety of models found in literature, choosing the right one can be difficult as many of them are lacking precise methodology. This study aims to analyze and compare original burn models in terms of burn device and technique, parameters, and wound depth assessment. METHODS A systematic search was performed according to PRISMA guidelines on studies describing original experimental burn models in rats. The adapted PICO formula and ARRIVE checklist were followed for inclusion and assessment of quality of studies. Characteristics of animals, burn technique, burn parameters and method of histological confirmation of burn depth were recorded. RESULTS Twenty-seven studies were included in the final analysis. Most studies used direct contact with skin for burn infliction (n=20). The rat’s dorsum was the most common site (n=18). Ten studies used manually controlled burn devices, while ten designed automatic burn devices with control over temperature (n=10), exposure time (n=5), and pressure (n=5). Most studies (n=7) used a single biopsy taken from the center of the wound to confirm burn depth immediately after burn infliction. CONCLUSION From the wide variety of burn models in current literature, our study provides an overview of the most relevant experimental burn models in rats aiding researchers to understand what needs to be addressed when designing their burn protocol. Models cannot be compared as burn parameters variate significantly. Assessment of burn depth should be done in a standardized, sequential fashion in future burn studies to increase reproducibility.

Arginase Deficiency Presenting as Cerebral Palsy

PEDIATRICS ◽  
1993 ◽  
Vol 91 (5) ◽  
pp. 995-996
Author(s):  
ANGELA E. SCHEUERLE ◽  
ROBERT MCVIE ◽  
ARTHUR L. BEAUDET ◽  
STUART K. SHAPIRA
Keyword(s):  
Cerebral Palsy ◽  
Autosomal Recessive ◽  
Urea Cycle ◽  
Case Reports ◽  
Growth Failure ◽  
Autosomal Recessive Disorder ◽  
Psychomotor Retardation ◽  
Uncomplicated Pregnancy ◽  
Arginase Deficiency ◽  
Cycle Disorders

Arginase catalyzes the conversion of arginine to ornithine and urea in the final step of the urea cycle. The enzyme deficiency disease, argininemia, is a rare autosomal recessive disorder which presents with progressive psychomotor retardation, growth failure, seizures, and spasticity affecting the lower extremities more than the upper.1 It does not, however, commonly have the severe hyperammonemia seen with other urea cycle disorders.1,2 We describe two unrelated patients, previously thought to have cerebral palsy, who were later found to have arginase deficiency. This suggests that the condition may be underdiagnosed because of its relatively mild symptoms. CASE REPORTS Patient 1, a 9-year-old boy, was born at term after an uncomplicated pregnancy to nonconsanguineous African-American parents.

scholarly journals Fabry disease, a complex pathology not easy to diagnose

2015 ◽  
Vol 5 (1) ◽  
Author(s):  
Paolo Colomba ◽  
Simone Scalia ◽  
Giuseppe Cammarata ◽  
Carmela Zizzo ◽  
Daniele Francofonte ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Vascular Endothelium ◽  
Clinical Manifestations ◽  
Premature Death ◽  
Lysosomal Storage ◽  
Familial Data ◽  
Enzyme Replacement ◽  
Cerebrovascular Complications ◽  
Cellular Events

Fabry disease is a multisystemic lysosomal storage disorder, inherited in an X-linked manner. It is a defect of metabolism of the glycosphingolipids, due to the reduction or absence of the activity of lysosomal enzyme α-galactosidase A. This reduction of activity causes the storage of globotriaosylceramide and derivatives in the lysosomes, triggering a cascade of cellular events, mainly in vascular endothelium. These events are the responsible for the systemic clinical manifestations and the renal, cardiac and cerebrovascular complications, or a combination of them. The symptomatology can lead to the premature death of patient between the fourth or fifth decade of life. The first symptoms can occur at different ages, generally in childhood, with different severity and course. Fabry disease is suspected on the basis of clinical and anamnestic-familial data, and it is confirmed by enzymatic and genetic assays. However, Fabry disease could be a pathology more complex than previously considered, and the diagnostic tests that are currently in use could be not always sufficient to confirm the clinical diagnosis. Probably, other factors could be also involved in the onset of symptomatology. In the last years, the knowledge of the disease is considerably increased but other studies are necessary to make a prompt and reliable diagnosis. An early diagnosis of Fabry disease is essential for the beginning of the enzyme replacement therapy, which can contribute to arrest its progression and improve the quality of life of patients.

scholarly journals Pattern of Hypertension in Fayoum Governorate

2019 ◽  
pp. 1-8
Author(s):  
Eman M. Ezzat ◽  
Maher A. Al Amir ◽  
Abdelrahman A. Ewais
Keyword(s):  
Prevalence Rate ◽  
Premature Death ◽  
Hypertensive Patients ◽  
Related Risk ◽  
High Prevalence ◽  
Study Population ◽  
Laboratory Investigations ◽  
Low Levels ◽  
Fayoum Governorate

Background: Hypertension is a preventable cause of premature death worldwide. Data from the Egyptian National Hypertension Project (NHP) revealed that hypertension is a significant problem among Egyptians. We studied the prevalence of hypertension, related risk factors and its complications in Fayoum governorate. Patients and Methods: This study included 2800 Egyptian participants aged 18 to 60 years old from Fayoum governorate selected randomly from different places in Fayoum governorate. Blood pressure was measured for them. Re-measurement for those with BP measurements ≥ 140/90 was done with a further assessment. Known hypertensive patients were thoroughly evaluated by clinical examination and laboratory investigations. Results: Our survey revealed that the prevalence rate of hypertension in Fayoum governorate was 28.4% (19.3% were aware and 9.1% were first diagnosed and unaware of their hypertension), 11% of the study population were pre-hypertensives. Poorly controlled hypertensive patients were 59.9%. Of all hypertensive patients, 63.4% of them were females, 87.9% of them were overweight and obese, while 26.3% of them had diabetes mellitus. Also, 41% of known hypertensive patients had complications. Conclusion and Recommendations: There is a high prevalence rate of hypertension in Fayoum governorate. More knowledge is required to reveal the reasons behind this high prevalence in addition to the low levels of control and awareness of hypertension, to put the appropriate strategy to improve the rate of control, awareness, and quality of life of hypertensive patients in Egypt.

scholarly journals Clinical efficacy of Thumari gel in the management of superficial non healing leg ulcers- A rare case report.

2017 ◽  
Vol 1 (1) ◽  
pp. 1-5
Author(s):  
Naresh Kumar Ghodela ◽  
Tukaram Dudhamal
Keyword(s):  
Lower Extremity ◽  
Venous Insufficiency ◽  
Treatment Approach ◽  
Wound Care ◽  
Multidisciplinary Treatment ◽  
Local Application ◽  
Rare Case Report ◽  
Arterial Insufficiency ◽  
Underlying Pathophysiology

Ulcers in lower extremity are generally caused by venous insufficiency, arterial insufficiency, and diabetic neuropathy. Inflammatory ulcers are also difficult to diagnose because of underlying pathophysiology rests on inflammation and immunologic phenomena. Definitive diagnosis and multidisciplinary treatment approach are needed to manage lower extremity ulcers. These ulcers may hamper the quality of life of patient. Here we reported a new case of post fracture of shaft of right tibia bone, presented with painful, hypertrophied, irregular shaped ulcer on anterior aspect of tibia gradually developing since 3 months. A male patient of 45 years old consulted to OPD with above complaint that was unable to bear weight on the effected leg (right limb). This case was managed with a local application of Thumari Gel and ulcers were almost healed within 6 weeks of wound care along with internal use of Ayurveda medicines. This case concluded that regular local application of Thumari Gel helpful in healing of chronic ulcer.

scholarly journals POSTURAL DISORDERS IN THE ELDERLY IN STATIC ASSESSMENT

2019 ◽  
Vol 72 (9) ◽  
pp. 1703-1707
Author(s):  
Magdalena Sobiech ◽  
Magdalena Zawadka ◽  
Maciej Kochman ◽  
Jaromir Jarecki ◽  
Tomasz Blicharski ◽  
...  
Keyword(s):  
Physical Activity ◽  
Healthy Lifestyle ◽  
Premature Death ◽  
The Elderly ◽  
The Body ◽  
Physical And Mental Health ◽  
Static Assessment ◽  
Limited Physical Activity ◽  
Active Recreation

Physical activity is one of the most important element of a healthy lifestyle and determinant of the physical and mental health. According to the WHO, limited physical activity is the fourth most common premature death risk factor in the world. Regular sport and active recreation is very important for our health. Physical exercise is the most effective method used by physiotherapists to prevent and slow down the aging process of the body, and consequently, diseases of elderly (e.g. osteoporosis, diabetes, hypertension and injuries). Physical activity has a positive effect on the quality of life and cognitive functions of elderly. The physiotherapeutic program should be based on functional training involving the entire human body. To plan and monitor the effectiveness of the training, different types of tests are used to assess the functional status of elderly people. These tests are based on the Comprehensive Geriatric Assessment considering the state of health, physical and mental fitness as well as social and environmental determinants.

scholarly journals Migraine: Experimental Models and Novel Therapeutic Approaches

2019 ◽  
Vol 20 (12) ◽  
pp. 2932 ◽  
Author(s):  
Giuseppe Tardiolo ◽  
Placido Bramanti ◽  
Emanuela Mazzon
Keyword(s):  
Experimental Models ◽  
Brain Targeting ◽  
Future Perspective ◽  
Therapeutic Effects ◽  
Therapeutic Approaches ◽  
Pharmacological Targets ◽  
Genetic Modifications ◽  
Inflammatory Soup ◽  
Calcitonin Gene

Migraine is a disorder affecting an increasing number of subjects. Currently, this disorder is not entirely understood, and limited therapeutic solutions are available. Migraine manifests as a debilitating headache associated with an altered sensory perception that may compromise the quality of life. Animal models have been developed using chemical, physical or genetic modifications, to evoke migraine-like hallmarks for the identification of novel molecules for the treatment of migraine. In this context, experimental models based on the use of chemicals as nitroglycerin or inflammatory soup were extensively used to mimic the acute state and the chronicity of the disorder. This manuscript is aimed to provide an overview of murine models used to investigate migraine pathophysiology. Pharmacological targets as 5-HT and calcitonin gene-related peptide (CGRP) receptors were evaluated for their relevance in the development of migraine therapeutics. Drug delivery systems using nanoparticles may be helpful for the enhancement of the brain targeting and bioavailability of anti-migraine drugs as triptans. In conclusion, the progresses in migraine management have been reached with the development of emerging agonists of 5-HT receptors and novel antagonists of CGRP receptors. The nanoformulations may represent a future perspective in which already known anti-migraine drugs showed to better exert their therapeutic effects.

Treatment of Skin Injury due to Vinorelbine Extravasation Using bFGF and rhGM-CSF: An Experimental Study in a Murine Model

2010 ◽  
Vol 13 (1) ◽  
pp. 32-37 ◽  
Author(s):  
Chunhua Yu ◽  
Jin Wang ◽  
Yan Fu ◽  
Yongqiu Mao ◽  
Yongshun Chen ◽  
...  
Keyword(s):  
Murine Model ◽  
Maximum Size ◽  
Experimental Models ◽  
Control Group ◽  
Skin Injury ◽  
Macrophage Colony Stimulating Factor ◽  
The Difference ◽  
Macrophage Colony ◽  
And Control

Background and objective: A murine model of skin injury from vinorelbine extravasation was established to evaluate the treatment efficacy of basic fibroblast growth factor (bFGF) and recombinant human granulocyte-macrophage colony-stimulating factor (rhGM-CSF). Materials and method: Experimental models were divided into bFGF, rhGM-CSF, and control (saline) groups, with 40 mice in each group. Edema and ulceration were measured on Days 1, 3, 5, 7, 10, 14, and 18 after the onset of extravasation; injuries were examined pathomorphologically in three mice/group/time point. Results: Edema reached maximum size on Day 3 in the bFGF and rhGM-CSF groups and Day 5 in the control group. The difference between the two experimental groups was not significant; differences between the control group and the experimental groups were statistically significant at all time points. Edema and ulceration began to improve on Day 10 in the bFGF and rhGM-CSF groups and Day 18 in the control group. Healing duration was 14—18 days in the experimental groups, with a (not significantly) shorter duration in the bFGF group. Healing was completed by Day 27.5 in the control group. Pathomorphological evaluation showed regular reepithelization and newly formed granulation tissue in the bFGF and rhGM-CSF groups on Day 13. In the control group, wounds were partially healed, edema and shallow ulcers existed, and epithelization was fragile and disorganized on Day 18. Conclusions: bFGF and rhGM-CSF are useful for the treatment of skin injury due to vinorelbine extravasation, but bFGF may be slightly more effective in decreasing time and improving quality of healing.

scholarly journals Carrier frequency of the IVS4 + 4 A-->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population

Blood ◽  
1995 ◽  
Vol 86 (11) ◽  
pp. 4034-4038 ◽  
Author(s):  
PC Verlander ◽  
A Kaporis ◽  
Q Liu ◽  
Q Zhang ◽  
U Seligsohn ◽  
...  
Keyword(s):  
Fanconi Anemia ◽  
Carrier Frequency ◽  
Jewish Population ◽  
Genomic Structure ◽  
Autosomal Recessive Disorder ◽  
Amplification Refractory Mutation System ◽  
Ashkenazi Jewish ◽  
Coding Region ◽  
Ashkenazi Jewish Population ◽  
Fanconi Anemia Gene

Fanconi anemia (FA) is a genetically and phenotypically heterogeneous autosomal recessive disorder defined by a cellular hypersensitivity to DNA cross-linking agents. One of the FA genes, FAC, has been cloned and the genomic structure of the coding region has been characterized. We have developed amplification refractory mutation system (ARMS) assays for five known mutations in FAC, and have applied these assays to determine the carrier frequency of the IVS4 + 4 A-->T (IVS4) mutation in an Ashkenazi Jewish population. We tested 3,104 Jewish individuals, primarily of Ashkenazi descent, for the two most common FAC mutations, IVS4 and 322delG. Thirty-five IVS4 carriers were identified, for a carrier frequency of 1 in 89 (1.1%; 95% confidence interval 0.79% to 1.56%); no 322delG carriers were found. To determine if the IVS4 mutation was confined to the Ashkenazi Jewish population, we tested 563 Iraqi Jews for IVS4, and no carriers were found. Because the IVS4 mutation has only been found on chromosomes of Ashkenazi Jewish origin and is the only FAC mutation found on these chromosomes, we suggest that a founder effect is responsible for the high frequency of this mutation. With a carrier frequency greater than 1% and simple testing available, the IVS4 mutation merits inclusion in the battery of tests routinely provided to the Jewish population.

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