scholarly journals Glutaric Acidemia, Pathogenesis and Nutritional Therapy

2021 ◽  
Vol 8 ◽  
Author(s):  
Qian Li ◽  
Chunlan Yang ◽  
Lijuan Feng ◽  
Yazi Zhao ◽  
Yong Su ◽  
...  

Glutaric acidemia (GA) are heterogeneous, genetic diseases that present with specific catabolic deficiencies of amino acid or fatty acid metabolism. The disorders can be divided into type I and type II by the occurrence of different types of recessive mutations of autosomal, metabolically important genes. Patients of glutaric acidemia type I (GA-I) if not diagnosed very early in infanthood, experience irreversible neurological injury during an encephalopathic crisis in childhood. If diagnosed early the disorder can be treated successfully with a combined metabolic treatment course that includes early catabolic emergency treatment and long-term maintenance nutrition therapy. Glutaric acidemia type II (GA- II) patients can present clinically with hepatomegaly, non-ketotic hypoglycemia, metabolic acidosis, hypotonia, and in neonatal onset cardiomyopathy. Furthermore, it features adult-onset muscle-related symptoms, including weakness, fatigue, and myalgia. An early diagnosis is crucial, as both types can be managed by simple nutraceutical supplementation. This review discusses the pathogenesis of GA and its nutritional management practices, and aims to promote understanding and management of GA. We will provide a detailed summary of current clinical management strategies of the glutaric academia disorders and highlight issues of nutrition therapy principles in emergency settings and outline some specific cases.

Author(s):  
Anjali Mukerjee

It has been found that high prevalence of hypertension and Type II diabetes is coincidental to obesity. A well-defined nutrition therapy is one of the most effective methods of managing and slowing down the rate of development of Type II diabetes, gastrointestinal (GI) problems, and hypertension. A healthy diet or plan for the above-mentioned complications should be one that is naturally rich in phytochemicals and low in glycemic index, bad fats, and excess calories. This case study deals with the benefits of an “Integrated approach” in the management of diabetes, hypertension, gastric disorders, and obesity. The “integrated approach” includes patient-specific nutritional therapy, ayurvedic herb support, vitamins and dietary supplements, stress management, and regular exercise. The subject in this study was a 39-year-old obese female with a clinical history of Type II diabetes, borderline hypertension, and GI issues. Apart from these she also complained of low immunity, low energy levels, and high levels of stress. During the 10-month treatment, significant weight loss was achieved along with normalization of blood sugar levels and steady lowering of blood pressure with subsequent improvement in gastric problems and improved energy levels. Hence, the case report aptly illustrates that an integrated approach can help, not only manage diabetes, hypertension, and obesity but also reduce drug dosage and significantly improve quality of life.


2006 ◽  
Vol 82 (2) ◽  
pp. 213-222 ◽  
Author(s):  
M. A. McCoy ◽  
S. D. Lennox ◽  
C. S. Mayne ◽  
W. J. McCaughey ◽  
H. W. J. Edgar ◽  
...  

AbstractA detailed investigation was conducted to identify the main factors influencing the current poor reproductive performance in dairy herds in Northern Ireland. Nineteen herds were selected and a comprehensive database was established, comprising detailed information collected over a 2-year period. Milk progesterone monitoring (no.=1423 cows), based on twice weekly sampling, was included in this on-farm investigation. The mean interval from calving to commencement of luteal activity was 30·1 days and 13·4% (184/1378) of these cows had not commenced luteal activity by day 50post partum. In addition, there was a high incidence of abnormal progesterone profiles: delayed ovulation type I; 15·6% (242/1388), delayed ovulation type II; 11·7% (125/965), persistent corpus luteum type I; 19·4% (212/1121) and persistent corpus luteum type II; 11·9% (70/619). Delayed commencement of luteal activity and abnormal profiles were associated with reduced fertility performance manifested as increased interval to first AI service and ultimately prolonged calving interval. Delayed commencement of luteal activity and abnormal progesterone profiles, with the exception of ‘delayed ovulation type II’ profiles, were not associated with lower conception rates. Assistance at calving was associated with delayed commencement of luteal activity. Delayed commencement of luteal activity and delayed ovulation types I and II profiles were associated with indicators of nutritional stress and poorer production performance in early lactation. Retained foetal membranes were strongly associated with prolonged luteal phases (persistent corpus luteum types I and II profiles). While hormonal therapy may prove useful in treating cows with abnormal milk progesterone profiles, the prevention and treatment of associated diseases and the implementation of good management practices are likely to be more rewarding.


2021 ◽  
Vol 59 (09) ◽  
pp. 944-953
Author(s):  
Marko Weber ◽  
Nina Wolf ◽  
Federica Branchi ◽  
Paul Tangermann ◽  
Alice Itzlinger ◽  
...  

AbtractRefractory celiac disease (RCD) refers to a rare subgroup of patients with celiac disease who show clinical signs of malabsorption despite a gluten-free diet. RCD is divided into an autoimmune phenotype (RCD type I) and pre-lymphoma (RCD type II). To reflect the clinical reality in managing this disease in Germany, a national register was established based on a questionnaire developed specifically for this purpose. Between 2014 and 2020, a total of 53 patients were registered. The diagnosis of RCD was confirmed in 46 cases (87%). This included 27 patients (59%) with RCD type I and 19 patients (41%) with RCD type II. A wide range of diagnostic and therapeutic measures was used. Therapeutically, budesonide was used in 59% of the RCD patients regardless of the subtype. Nutritional therapy was used in only 5 patients (11%). Overall mortality was 26% (12 patients) with a clear dominance in patients with RCD type II (9 patients, 47%). In summary, RCD needs to become a focus of national guidelines to increase awareness, establish standards, and thus enable the treating physician to make the correct diagnosis in a timely manner. Moreover, we concluded that when treating such patients, contacting a specialized center is recommended to ensure sufficient management.


Author(s):  
Ronald S. Weinstein ◽  
N. Scott McNutt

The Type I simple cold block device was described by Bullivant and Ames in 1966 and represented the product of the first successful effort to simplify the equipment required to do sophisticated freeze-cleave techniques. Bullivant, Weinstein and Someda described the Type II device which is a modification of the Type I device and was developed as a collaborative effort at the Massachusetts General Hospital and the University of Auckland, New Zealand. The modifications reduced specimen contamination and provided controlled specimen warming for heat-etching of fracture faces. We have now tested the Mass. General Hospital version of the Type II device (called the “Type II-MGH device”) on a wide variety of biological specimens and have established temperature and pressure curves for routine heat-etching with the device.


Author(s):  
G. D. Gagne ◽  
M. F. Miller ◽  
D. A. Peterson

Experimental infection of chimpanzees with non-A, non-B hepatitis (NANB) or with delta agent hepatitis results in the appearance of characteristic cytoplasmic alterations in the hepatocytes. These alterations include spongelike inclusions (Type I), attached convoluted membranes (Type II), tubular structures (Type III), and microtubular aggregates (Type IV) (Fig. 1). Type I, II and III structures are, by association, believed to be derived from endoplasmic reticulum and may be morphogenetically related. Type IV structures are generally observed free in the cytoplasm but sometimes in the vicinity of type III structures. It is not known whether these structures are somehow involved in the replication and/or assembly of the putative NANB virus or whether they are simply nonspecific responses to cellular injury. When treated with uranyl acetate, type I, II and III structures stain intensely as if they might contain nucleic acids. If these structures do correspond to intermediates in the replication of a virus, one might expect them to contain DNA or RNA and the present study was undertaken to explore this possibility.


Author(s):  
T.A. Fassel ◽  
M.J. Schaller ◽  
M.E. Lidstrom ◽  
C.C. Remsen

Methylotrophic bacteria play an Important role in the environment in the oxidation of methane and methanol. Extensive intracytoplasmic membranes (ICM) have been associated with the oxidation processes in methylotrophs and chemolithotrophic bacteria. Classification on the basis of ICM arrangement distinguishes 2 types of methylotrophs. Bundles or vesicular stacks of ICM located away from the cytoplasmic membrane and extending into the cytoplasm are present in Type I methylotrophs. In Type II methylotrophs, the ICM form pairs of peripheral membranes located parallel to the cytoplasmic membrane. Complex cell wall structures of tightly packed cup-shaped subunits have been described in strains of marine and freshwater phototrophic sulfur bacteria and several strains of methane oxidizing bacteria. We examined the ultrastructure of the methylotrophs with particular view of the ICM and surface structural features, between representatives of the Type I Methylomonas albus (BG8), and Type II Methylosinus trichosporium (OB-36).


1987 ◽  
Vol 48 (C5) ◽  
pp. C5-525-C5-528 ◽  
Author(s):  
K. J. MOORE ◽  
P. DAWSON ◽  
C. T. FOXON
Keyword(s):  
Type I ◽  
Type Ii ◽  

2020 ◽  
pp. 37-55 ◽  
Author(s):  
A. E. Shastitko ◽  
O. A. Markova

Digital transformation has led to changes in business models of traditional players in the existing markets. What is more, new entrants and new markets appeared, in particular platforms and multisided markets. The emergence and rapid development of platforms are caused primarily by the existence of so called indirect network externalities. Regarding to this, a question arises of whether the existing instruments of competition law enforcement and market analysis are still relevant when analyzing markets with digital platforms? This paper aims at discussing advantages and disadvantages of using various tools to define markets with platforms. In particular, we define the features of the SSNIP test when being applyed to markets with platforms. Furthermore, we analyze adjustment in tests for platform market definition in terms of possible type I and type II errors. All in all, it turns out that to reduce the likelihood of type I and type II errors while applying market definition technique to markets with platforms one should consider the type of platform analyzed: transaction platforms without pass-through and non-transaction matching platforms should be tackled as players in a multisided market, whereas non-transaction platforms should be analyzed as players in several interrelated markets. However, if the platform is allowed to adjust prices, there emerges additional challenge that the regulator and companies may manipulate the results of SSNIP test by applying different models of competition.


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