Aim: To highlight the challenge in the management of Arginosuccinic acidemia as well as demonstrate the importance of newborn screening for inborn errors of metabolism. Method: Report of two cases of neonatal onset ASA with encephalopathy and review of relevant literature. Conclusion: Early diagnosis and institution of appropriate intervention can significantly improve outcome. Routine newborn metabolic screening should not only be implemented universally, the result should be available promptly.
In collaboration with the New England Regional Genetics Network, the Weitzman Institute aims to improve access to genetics services for underserved populations by offering primary care provider educational support through a free five-part webinar series that aims to enhance provider knowledge, practice, and attitudes regarding genetic services.
Acute kidney injury (AKI) - a sudden impairment in kidney function, that results in the retention of nitrogenous waste products and alters the regulation of extracellular fluid volume, electrolytes, and acid-base homeostasis.
In collaboration with the New England Regional Genetics Network, the Weitzman Institute aims to improve access to genetics services for underserved populations by offering primary care provider educational support through a free five-part webinar series that aims to enhance provider knowledge, practice, and attitudes regarding genetic services.
Acute kidney injury (AKI) - a sudden impairment in kidney function, that results in the retention of nitrogenous waste products and alters the regulation of extracellular fluid volume, electrolytes, and acid-base homeostasis.
medical nutrition products - rol van medische voedingtcnn
De rol van medische voeding
Nutricia Advanced Medical Nutrition heeft als missie: "Herstel en welzijn begint voor iedere patiënt die het nodig heeft met Nutricia Advanced Medical Nutrition" Dat betekent voor Nutricia dat medische voeding een essentieel onderdeel is van medische behandelingen.
Voor oudere patiënten kan het lastig zijn om voldoende te blijven eten. Terwijl goede voeding voor hen juist extra belangrijk is.
Screening for any disorder in individuals is a strategy used for identifying a disease before the onset of signs or symptoms, thus enabling earlier detection and management with the aim to reduce morbidity and mortality.
Neonatal screening for inborn errors of metabolismPydesalud
Presentación empleada por Pedro serrano Aguilar durante su charla en el encuentro Genetic insidER (Sevilla, 16-17 abril 2015).
Más info: http://www.genetic-insider.com/es/index.php
Hello readers.................!!!!!!!!!!!!!!
This is my 32nd powerpoint.....its regarding a form of childhood epilepsy, known as "LENNOX-GASTAUT SYNDROME".
It has been dealt with in the Therapeutics way, and in precise format.
Do look into it and give your reviews!!!!
Thank you!!!!
@rxvichu-alwz4uh!!!!
:) :)
medical nutrition products - rol van medische voedingtcnn
De rol van medische voeding
Nutricia Advanced Medical Nutrition heeft als missie: "Herstel en welzijn begint voor iedere patiënt die het nodig heeft met Nutricia Advanced Medical Nutrition" Dat betekent voor Nutricia dat medische voeding een essentieel onderdeel is van medische behandelingen.
Voor oudere patiënten kan het lastig zijn om voldoende te blijven eten. Terwijl goede voeding voor hen juist extra belangrijk is.
Screening for any disorder in individuals is a strategy used for identifying a disease before the onset of signs or symptoms, thus enabling earlier detection and management with the aim to reduce morbidity and mortality.
Neonatal screening for inborn errors of metabolismPydesalud
Presentación empleada por Pedro serrano Aguilar durante su charla en el encuentro Genetic insidER (Sevilla, 16-17 abril 2015).
Más info: http://www.genetic-insider.com/es/index.php
Hello readers.................!!!!!!!!!!!!!!
This is my 32nd powerpoint.....its regarding a form of childhood epilepsy, known as "LENNOX-GASTAUT SYNDROME".
It has been dealt with in the Therapeutics way, and in precise format.
Do look into it and give your reviews!!!!
Thank you!!!!
@rxvichu-alwz4uh!!!!
:) :)
Except in association with molar or hydropic degeneration of the placenta, with or without a coexistent fetus, eclampsia before 20 weeks of gestation is rare and only few cases have been described. The case reported was that of a 24 year old primipara who had tonic-clonic seizures at 19 weeks gestation without prior Preeclampsia. She remained stable and was managed closely up to 36 weeks gestation. She had spontaneous vaginal delivery of a live baby at 38 weeks with good outcome. Atypical eclampsia may develop before 20 weeks of gestation and could pose serious management challenges. Such patients if carefully selected and closely monitored may have satisfactory outcome. This case deserves reporting because of its rare nature as several literature search did not reveal any reported case of eclampsia before 20 weeks that was successfully managed to term.
this is presentation done for a morning session of dhaka medical college hospital, paediatrics department by dr. tasnuba atique and nur-e-jannat naima. the information was collected from various textbooks and arranged in an easy-to-read manner to conduct a presentation of 45 minutes.
This presentation discusses the various presentation of inborn error of metabolism to pediatric ICU and basic management of such cases. Also discusses the basic evaluation and iagnostic appraoch to various inborn of error of metabolism with consideration to pediatric critical care
Hypoglycemia in the Newborn - Ashish Jain & Rajiv Aggarwal & M. Jeeva Sankar &Ramesh Agarwal & Ashok K. Deorari & Vinod K. Paul- Indian J Pediatr (2010) 77:1137–1142- Artigo apresentado e discutido em reunião científica da Liga Acadêmica de Pediatria da UFRN - LAPED UFRN - Natal - Brasil.
Carbon monoxide (CO) poisoning is a major public health issue in the United States that accounts for approximately 50% of poisoning cases in the nation each year and around 50,000 emergency room visits. In most instances of CO poisoning, the culprit is a malfunctioning or poorly tended heating system within the home or, occasionally, commercial building, which causes the system to leak this hazardous gas. One of the more insidious aspects of CO poisoning is that the gas is odorless and colorless, and victims of CO poisoning often do not realize that there is a problem until they begin to experience the effects of poisoning and have no choice but to seek medical attention. Unfortunately, many victims of CO poisoning die before they are able to seek treatment. This paper makes use of a qualitative, systematic literature review to examine the four major parts of the brain that are most severely affected by CO poisoning. Overall, the literature review showed that the white matter, globus pallidus, basal ganglia, and cortex are the parts of the brain most severely impacted by CO poisoning. While many CO poisoning victims do make it to the hospital on time and are treated, they may nonetheless suffer long-term neurological consequences as a result of their exposure. As such, CO poisoning is a major public health issue.
Drug abuse has now become a major public health problem in Nigeria requiring urgent attention. Although drug abuse cut across all age groups, the youths are however the most affected. This study aimed at assessing Community Pharmacists involvement in the rehabilitation of drug abuse victims. The study was carried out in Abuja Municipal Area Council, questionnaires were administered to Community Pharmacists practicing within the Area Council. A total of 176 Community Pharmacists participated in the study, and slightly above a quarter (27.43%) of them had post-graduate degrees. More than three-quarters (79.5%) of the study participants had received training on drug abuse. A total of 89.2% of the study participants had come across persons suspected to be abusing prescription medicines. Almost all (96.6%) of the study participants indicated that they are willing to advise persons suspected to be abusing drugs on the dangers of drug abuse, and 88.1% of the study participants had spoken to clients concerning abuse of prescription medicines. Also, more than three-quarters (80.1%) of the study participants indicated that pharmacists’ role in the prevention of drug abuse is very important. The study has revealed that Community Pharmacists can play an invaluable role in the rehabilitation of drug abuse victims in Nigeria.
Background; Social Class has shown relation with admissions at Emergency Departments. To assess whether there is a relationship between the level of triage and the social class of patients who attend the emergency department and whether there are other variables that can modulate this association. Methods Observational study with 1000 patients was carried out between May and July 2018 in the Emergency Department of the University Hospital Arnau de Vilanova in Lleida. Sociodemographic variables such as age, gender, country of origin and marital status were analyzed. The triage level and the main explanatory variable was social class. Social class was calculated based on the CSO-SEE 2012 scale. Results 49.4% were male and the average age was 51.7 years. Most of the patients (66.6%) attended the emergency department under their own volition and the most common triage levels were level III or Emergency (45%). There is a significant relationship between age and triage level. The younger patients had a lower triage level (p <0.001). The percentage of patients with lower social class who attended the emergency department for minor reasons was 42% higher compared to the rest of the patients (RR = 1.42; 1.21-1.67 95% CI, p <0.001). Conclusions; Patients with a lower socioeconomic class go to the Emergency Department for less serious pathologies.
This paper will explore child health care and treatment seeking behavior of villagers and presents factors that discourage them from using public health facilities. The perspective of human health is not only stay behind in the contact between the disease and the human body and the extermination of the demon by providing few medicines rather it is a complex web where multiple factors are affecting human to live a sound life. The environment has a diverse effect on human life: some indulge humans with it extravaganza while some impose serious theaters but one thing in common, every environment shares basic problems of acquiring and allocating space, food, energy and resources for health. Haor people have endless problems to meet, starting from food to basic human rights. Maintaining a healthy life does end up with some formality of going to some popular and folk treatment though going to professionals is rare. Government and non-Governmental organizations have a variety of scope to improve the situation by providing health infrastructure, awareness building measures, eradicating superstition and including health education in the school curriculum.
Objective: The purpose of this paper is to review literature on music and biomarkers of stress in order to (1) Identify music interventions and (2) Detail the biomarkers of stress associated with music. Methods: PRISMA guidelines were followed in performing this systematic review. Studies published from January 1995 to January 2020 that pertain to biomarkers of stress and music were identified through the use of the PubMed database, using the keywords: ‘music’ AND ‘biomarker’ OR ‘marker’ OR ‘hormone’. Two authors independently conducted a focused analysis and reached a final consensus on 16 studies that met the specific selection criteria and passed the study quality checks. Results: The reviewed studies were all randomized controlled trials. Reviewed music interventions included Music Listening (ML), Meditational Music (MM), ‘Guided Imagery and Music’ (GIM), and Singing. The studies showed that music is associated with a decreasing trend in cortisol, salivary α-amylase, heart rate, and blood pressure, as well as an increasing trend in Immunoglobulin A (IgA), oxytocin, and EEG theta wave, while testosterone was associated with sex-related differences. Conclusion: Music is associated with significant changes in biomarkers of stress, suggesting that it could be utilized for the development of stress reduction tools.
Background: Nurse practitioners play a vital role in wound care and management because of the prevalence of wounds in the community and hospital setting. Aims and objectives: The purpose was to identify current knowledge and practices of nurses with respect to wound management. Method: A qualitative descriptive research was designed, nineteen nurses in wound care wards in Bingham University teaching hospital were recruited into this study. This was achieved with the aid of a self-administered questionnaire for a two-week period. Results: Three groups of nurses responded to this survey (73.7% males; 31.6% aged 31-40 years). Registered nurses dominated (68.4%), majority of them worked in male ward (36.8%) and private ward (36.8%). Almost on full-time (94.7%), more than half were diploma holders (57.9%) with 1 to 5 years of experience (47.4%). Majority (84.2%) were involved in wound treatment and management, there were significant association between years of experience and wound classification, wound treatment, treatment failure and treatment failure factors. Conclusion: Wound care practices require accurate knowledge and assessment skills, a better understanding of wound management provides comprehensible, rapid patient wound care and minimizes patient mortality as well as reduces health services financial costs.
Background: Job satisfaction is a significant indicator of the way nurses feel about their profession, the efforts to perform their professional duties, or otherwise abandons it willingly. Method: cross-sectional research design approach was used to assess the job satisfaction and the associated factors among 300 hundred nurses. Data was analyzed using descriptive statistics and kruskal wallis test for association between the socio-demographic variables and job satisfaction at significance level of 0.05 Result: About 1/3 of the respondents (31%) reported gross dissatisfaction with their job, 0% reported being well satisfaction while (68.7%) respondents reported moderate satisfaction with their job. Across items on the scale, gross dissatisfaction was noted on key managerial factors and the salary of the workers. Job satisfaction was associated with specialty (p<0.018), gender (P<0.002) and age (P<0.000) of Nurses. Conclusion: majority of the respondents were moderately satisfied with their job but grossly dissatisfied with salary and administrative roles like communication flow.
Viral infections have always been of major concern in communities, health care settings and medical fields including radiotherapy and Radiology. Recently corona virus infection has attained global attention in the wake of covid-19 outbreak and consequently highlighted importance of viral prevention, diagnostic and therapeutic strategies to control and treat viral disease. In view of the recent events, the author reviewed the current and past literature to discuss contagious versus infectious viral transmission, as well as simple and effective ways of preventing the spread of viral diseases in community and health care setting so that this information can be used for preventing viral transmission at all levels. The article is written for a wide variety of audiences i.e. scientific and medical communities policy makers and general public.
The Coronavirus Disease – 2019 (COVID-19) is officially now a pandemic and not just a public health emergency of international concern as previously labelled. Worldwide, the new coronavirus has infected more than 4.9 million people and leaving more than 300,000 people dead in 188 countries. As countries of the world get locked down in an effort to contain the widespread of the virus, experts are concern about the global impacts of the pandemic on individuals, countries and the world at large. Millions of people are currently under quarantine across the globe. Many countries have responded by proclaiming a public health emergency, closed their borders and restrict incoming flights from high risk countries. This has grossly affected the travel plan of many. Several international programs, conferences, workshops and sporting activities are either postponed or cancelled. As the number of confirmed cases continues to escalate across the globe, hospitals seems to be running out of medical supplies, hospital spaces and personnel. Health workers are being overwhelmed by the numbers of people requesting for testing and treatment. Many of such health workers have been infected with the coronavirus and even lost their lives since the fight against COVID-19 started. Public health experts are also concerned about the huge medical wastes coming from the hospitals at this time and the adverse effects associated with improper management of such medical wastes, both at the hospital and community levels. The pandemic has also impacted negatively on the global economy. There have been serious crises in the stock market, with gross fall in the price of crude oil resulting in inflation and economic hardship among the populace. Many are currently out of job and as a result, the level of crime, protest and violence have continued to escalate in different parts of the world. The deaths of loved ones due to the coronavirus has left many emotionally traumatized. Nigeria, like other African countries is not spared of the ravaging effects of the pandemic, even as the government take strict measures to contain the virus. No doubt, this is very challenging, but the country is capable of surmounting the virus with the needed help from her international partners and cooperation from the citizenry. But if we as a people, remain complacent and continue with business as usual, without taking measures to flatten the curve, the disease will escalate too quickly beyond our capacity to handle and our health system will be overwhelmed and may collapse eventually. We cannot therefore afford to be complacent in our response to containing the pandemic.
Purpose: To investigate the effect of sulfur dioxide on the lung microbiota of healthy rats. Methods Fifteen male rats were randomly divided into high dose and low dose exposure group and control group. After 7 days of SO2 exposure, the lung tissues were obtained and the lung microbiota was identified by Illumina high-throughput sequencing. Results The microbial community of lung microbiota was significantly alternated in the exposure group and the dominant phylum changed from Firmicutes to Proteobacteria. In addition, the SO2 exposure caused the bronchial wall thickening and a large number of inflammatory cell infiltration in the lungs of rats in exposure groups. Conclusions The results suggest that SO2 can significantly alter the lung microbiota and pathological structure of the lungs.
Malaria is still considered globally as a leading cause of morbidity with Nigeria carrying the highest burden of 19%. Coinfection of malaria and Human Immunodeficiency Virus (HIV) accelerate disease progression of HIV/AIDS subjects. This study investigated the prevalence and predictors of malaria among HIV infected subjects attending the antiretroviral therapy Clinic at Federal the Medical Centre, Keffi, Nigeria. After ethical clearance, 200 whole blood specimens were collected from patients who gave informed consent and completed a self-structured questionnaire. The specimens were examined for malarial parasite using rapid kits and microscopy. The overall prevalence of the infection was 78/200 (39.0%). The prevalence was higher in male (44.7%) than female (34.0%) subjects. Those subjects aged < 20 years (54.5), male gender (44.7%), non-formal education holders (61.5%), farmers (62.5%), stream water users (48.1%), those that lives in rural setting (43.6%), those that do not use Insecticides Treated Nets (ITNs) (39.4%) and swampy environment dwellers (41.7%) were identified predictors for malaria infection in the area. All the predictors studied did not show any statistically significant difference with the infection but some arithmetic difference exists (P > 0.05). The 39.0% prevalence of malaria in HIV infected subjects is a public health concern. Therefore, Public health surveillance and health education among HIV population should be advocated to help eradicate malaria comes 2030. Further study that will characterize the genes of the parasite should be carried out.
A mathematical model to eliminate malaria by breaking the life cycle of anopheles mosquito using copepods at larva stage and tadpoles at pupa stage was derived aimed at eradicating anopheles pupa mosquito by introduction of natural enemies “copepods and tadpoles” (an organism that eats up mosquito at larva and pupa stage respectively). The model equations were derived using the model parameters and variables. The stability analysis of the free equilibrium states was analyzed using equilibrium points of Beltrami and Diekmann’s conditions for stability analysis of steady state. We observed that the model free equilibrium state is stable which implies that the equilibrium point or steady state is stable and the stability of the model means, there will not be anopheles adult mosquito in our society for malaria transmission. The ideas of Beltrami’s and Diekmann conditions revealed that the determinant and trace of the Jacobian matrix were greater than zero and less than zero respectively implying that the model disease free equilibrium state is stable. Hence, the number of larva that transforms to pupa is almost zero while the pupa that develop to adult is zero meaning the life-cycle is broken at the larva and pupa stages with the introduction of natural enemy. Maple was used for the symbolic and numerical solutions.
Spindle cell neoplasms usually occur in head, neck, orbit, soft tissues of scalp and along the upper aerodigestive tract. They are relatively uncommon in lower gastrointestinal tract and represent a distinct clinical entity. Increased awareness is required among colorectal surgeons and pathologists due to their benign nature & uncertain etiology, to avoid misdiagnosis of rectal cancer. Definitive diagnosis necessitates immunohistochemical analysis. We present an unusual case of spindle cell neoplasm of rectum in an asymptomatic elderly gentleman, detected on screening colonoscopy. Following thorough evaluation with MRI pelvis, CT scan thorax, abdomen, pelvis with contrast and multidisciplinary meeting discussion (MDT) at our institution, he was successfully treated with a specialized minimally invasive approach (TAMIS). Histopathology with immunohistochemistry confirmed the diagnosis of spindle cell neoplasm. As they are uncommon in colorectum & non-invasive, management and long-term follow-up is still under study. These lesions should be differentiated from other stromal tumours in GIT.
Brucellosis is an infectious debilitating, acute or sub-acute febrile illness usually marked by an intermittent or remittent fever accompanied by malaise, anorexia and prostration, and which, in the absence of specific treatment, may persist for weeks or months. The aim of this study was to determine the relationship between Socio-Demography Characteristics and prevalence of brucellosis among community members in Kenya. A case of Mandera East Sub-county, Mandera County, Kenya. The study was descriptive cross sectional study which collected both qualitative and quantitative data from where a sample of 420 respondents was systematically selected from heads of 2,617 households form Mandera East Sub-county. The study instruments included questionnaire, Focus Group Discussion guide and Interview Guide. Blood samples were screened for brucellosis using Rose Bengal Plate Test (RBPT) and the positive sera were subjected through Serum Slow Agglutination Test (SSAT) which acted as a confirmatory test. Data was analyzed using SPSS Version 20 and results of the study presented in frequencies and percentages in Tables and Figures. Ethical issues were observed and consent sought from the respondents. Rose Bengal Plate Test (RBPT) indicated a prevalence of 24.8% (95% CI: 20.0–29.6) and Serum Slow Agglutination Test (SSAT) indicated that the prevalence was at 14.3% (95% CI: 8.7–19.9) among the respondents. The study showed that the seroprevalence was higher among the male respondents (98%; n=103) as detected through RBPT and (98%; n=57) confirmed through SSAT. There was significant relationship between the gender and seroprevalence as tested through RBPT (P<0.001).
The Matrix metalloproteinase-9 is involved in several pathologies. Its strong presence in ocular pathologies explains our interest for its genetic variation in cataract, glaucoma and retinoblastoma in Senegal. MMP9 is highly polymorphic with cataract and glaucoma. 77 mutations were noted with 21 haplotypes for the entire population. The haplotype diversity Hd is 0.831 and the nucleotide diversity Pi is 0.016; k = 17.395. The polymorphism of the Matrix metalloproteinase-9 gene is associated with all three diseases and SNP 3918249 is found in both cataract and glaucoma.
This paper proposes the development of a software that performs the pre-diagnosis of malignant melanoma, spincellular carcinoma and basal-cell carcinoma. The software is divided into five modules, these being: digital imaging, analysis and processing, storage, feature extraction and classification by means of an Artificial Neural Network (ANN). The results shown the performance of the software for two different combination of activation functions in the network. With the use of spectroscopic techniques for the acquisition of images and the combination of non-linear and linear activation functions in the ANN, the software shows an effectiveness greater than 80%, concluding that it can be an effective tool as an aid in the diagnosis of cancer of skin.
Background: Tuberculous meningitis is defined as an inflammatory response to mycobacterial bacterial infection of the pia, arachnoid and CSF of the subarachnoid space. It is a dangerous form of extrapulmonary tuberculosis because it can cause permanent neurological disabilities and even death. Stroke is a devastating complication which further increase the morbidity and mortality in the disease. Matrix metalloproteinases are endopeptidases which degrade all the components of the extracellular matrix and thus have potential to disrupt blood brain barrier and cause CNS damage. Matrix metalloproteinases have been associated with pathophysiology of ischemic stroke. MMP levels in serum and CSF have also been seen to rise with advancing stage of TBM. So it is postulated that MMP may have role in the pathophysiology of stroke in TBM and may serve as a biomarker to predict stroke in TBM. Aims: To compare Serum Matrix metalloproteinase-9 in patients with Tuberculous Meningitis with and without Stroke and correlate it with various clinical, biochemical and radiological features of TBM. Methods: 40 Patients of probable or definite TBM and 40 age and sex matched patients of TBM with clinical stroke were enrolled in the study and formed two groups i.e. cases and controls. The two groups were compared for various clinical parameters, biochemical parameters (CSF cytology, glucose and protein), neuroimaging parameters and serum MMP-9 levels. Serum MMP-9 was estimated by ELISA method. Results: Serum MMP-9 levels were (224 ± 261.627 ng/ml) in cases and (157.23 ± 197.155 ng/ml) controls, which though higher in cases but no difference was statistically significant (p value 0.157) between two groups. Also there was no correlation between the serum MMP-9 levels and various clinical features (duration of illness, fever, headache, vomiting, weight loss, seizure, hemiparesis), CSF characteristics (protein, sugar and cytology) and radiological findings (tuberculoma, and hydrocephalus). Conclusion: we conclude that MMP-9 levels is not correlated with occurrence of stroke in TBM. MMP-9 levels were not increased with severity of disease, complications and outcomes.
Background: Maternal health remains today, one of the major public health concerns in developing countries. Maternal deaths and newborn deaths usually occur within 48 hours of delivery. In Cameroon, despite all the initiatives set up by the Ministry of Public Health to reduce the mortality rate, the situation remains alarming in terms of postnatal consultation; this is much more felt in the West region of Cameroon, which is one of the most affected regions because 43.1% of women who give birth in hospitals do not return to postnatal consultation and this rate is higher than the national average with a value of 21.5%. Objective:This work aims to determine the factors influencing postnatal follow-up in the Bafang Health District. Methodology: This is a cross-sectional descriptive study for analytical purposes, carried out in the Bafang Health District between January 1 to November 30, 2017. Our study population consisted of all women of childbearing age living in the Bafang Health District during the study period. The variables studied were sociodemographic characteristics, socio-cultural characteristics and the provision of care. Results: Analysis carried out during this study, it appears that, the person who informs the women on the dates of rendez-vous during the CPoN (OR = 2.92; [95%CI = 1.16-7,]; p-value = 0.02), women who think the appropriate period of postnatal follow-up is 6 weeks postpartum (OR = 4.27, [95%CI = 1.47-12.39], p-value = 0.00 ) and those who massage the abdomen after childbirth (OR = 2.62, [95%CI = 1.34 - 5.12], p-value = 0.00) are more likely to have knowledge about follow-up postnatal. While women who have no knowledge of postnatal follow-up (OR = 0.18, 95%CI = 0.07-0.45, p-value = 0.00) are less likely to have more knowledge. Conclusion: Lack of knowledge of the existence and importance of postnatal consultation (CPoN), traditional practices are the factors that influence postnatal follow-up in the Bafang Health District. A good and effective care for women after childbirth requires increased awareness campaigns at the hospital level as well as in community settings.
To form the basis of a respiratory disease model in rats by investigating the microbial distribution and composition in the lower respiratory tracts of normal rats. Methods: DNA was extracted from the intestine, trachea, bronchus and lung samples collected from healthy rats under sterile conditions. The 16S rDNA V4-V5 region was sequenced using Illumina high-throughput technology. Results: The sequencing results showed that there was no significant difference in abundance and species diversity of microbiota between the lower respiratory and the intestine. The microbiota structure analysis showed samples from lungs and intestinal shared similarity. However, the dominant species at the levels of phylum, family, and genus diverged. The similarity analysis showed that the lung microbiota were different from the intestines. The linear discriminant analysis showed significantly different species in different tissues; function prediction also showed different microbiota function in different tissues. Conclusions: These results suggest that bacterial colonization depends on the sample’s anatomical location. The human pathogen Acinetobacter lwoffii was also detected in the rat lower respiratory tract samples.
In article the natural technology of improvement of qualities, normalization of a state and increase in activity of the person is considered. The spectral analysis of biofield, correction of a biofield by analog reconstructive optical method of tomography and healthy lifestyle are fundamentals of natural technology. According to the spectral analysis of a biofield the card of step-by-step correction is formed. According to the card of step-by-step correction stage-by-stage impact by the light, acoustic and power field on a biofield of the person is programmed. Process of correction of biofield is carried out under control of the expert in real time by means of a spectroscope. Process of correction comes to an end with normalization of biofield. After normalization of biofield, people passes to healthy activity.
The dimensions of healthcare quality refer to various attributes or aspects that define the standard of healthcare services. These dimensions are used to evaluate, measure, and improve the quality of care provided to patients. A comprehensive understanding of these dimensions ensures that healthcare systems can address various aspects of patient care effectively and holistically. Dimensions of Healthcare Quality and Performance of care include the following; Appropriateness, Availability, Competence, Continuity, Effectiveness, Efficiency, Efficacy, Prevention, Respect and Care, Safety as well as Timeliness.
India Clinical Trials Market: Industry Size and Growth Trends [2030] Analyzed...Kumar Satyam
According to TechSci Research report, "India Clinical Trials Market- By Region, Competition, Forecast & Opportunities, 2030F," the India Clinical Trials Market was valued at USD 2.05 billion in 2024 and is projected to grow at a compound annual growth rate (CAGR) of 8.64% through 2030. The market is driven by a variety of factors, making India an attractive destination for pharmaceutical companies and researchers. India's vast and diverse patient population, cost-effective operational environment, and a large pool of skilled medical professionals contribute significantly to the market's growth. Additionally, increasing government support in streamlining regulations and the growing prevalence of lifestyle diseases further propel the clinical trials market.
Growing Prevalence of Lifestyle Diseases
The rising incidence of lifestyle diseases such as diabetes, cardiovascular diseases, and cancer is a major trend driving the clinical trials market in India. These conditions necessitate the development and testing of new treatment methods, creating a robust demand for clinical trials. The increasing burden of these diseases highlights the need for innovative therapies and underscores the importance of India as a key player in global clinical research.
QA Paediatric dentistry department, Hospital Melaka 2020Azreen Aj
QA study - To improve the 6th monthly recall rate post-comprehensive dental treatment under general anaesthesia in paediatric dentistry department, Hospital Melaka
One of the most developed cities of India, the city of Chennai is the capital of Tamilnadu and many people from different parts of India come here to earn their bread and butter. Being a metropolitan, the city is filled with towering building and beaches but the sad part as with almost every Indian city
CRISPR-Cas9, a revolutionary gene-editing tool, holds immense potential to reshape medicine, agriculture, and our understanding of life. But like any powerful tool, it comes with ethical considerations.
Unveiling CRISPR: This naturally occurring bacterial defense system (crRNA & Cas9 protein) fights viruses. Scientists repurposed it for precise gene editing (correction, deletion, insertion) by targeting specific DNA sequences.
The Promise: CRISPR offers exciting possibilities:
Gene Therapy: Correcting genetic diseases like cystic fibrosis.
Agriculture: Engineering crops resistant to pests and harsh environments.
Research: Studying gene function to unlock new knowledge.
The Peril: Ethical concerns demand attention:
Off-target Effects: Unintended DNA edits can have unforeseen consequences.
Eugenics: Misusing CRISPR for designer babies raises social and ethical questions.
Equity: High costs could limit access to this potentially life-saving technology.
The Path Forward: Responsible development is crucial:
International Collaboration: Clear guidelines are needed for research and human trials.
Public Education: Open discussions ensure informed decisions about CRISPR.
Prioritize Safety and Ethics: Safety and ethical principles must be paramount.
CRISPR offers a powerful tool for a better future, but responsible development and addressing ethical concerns are essential. By prioritizing safety, fostering open dialogue, and ensuring equitable access, we can harness CRISPR's power for the benefit of all. (2998 characters)
Leading the Way in Nephrology: Dr. David Greene's Work with Stem Cells for Ki...Dr. David Greene Arizona
As we watch Dr. Greene's continued efforts and research in Arizona, it's clear that stem cell therapy holds a promising key to unlocking new doors in the treatment of kidney disease. With each study and trial, we step closer to a world where kidney disease is no longer a life sentence but a treatable condition, thanks to pioneers like Dr. David Greene.
Medical Technology Tackles New Health Care Demand - Research Report - March 2...pchutichetpong
M Capital Group (“MCG”) predicts that with, against, despite, and even without the global pandemic, the medical technology (MedTech) industry shows signs of continuous healthy growth, driven by smaller, faster, and cheaper devices, growing demand for home-based applications, technological innovation, strategic acquisitions, investments, and SPAC listings. MCG predicts that this should reflects itself in annual growth of over 6%, well beyond 2028.
According to Chris Mouchabhani, Managing Partner at M Capital Group, “Despite all economic scenarios that one may consider, beyond overall economic shocks, medical technology should remain one of the most promising and robust sectors over the short to medium term and well beyond 2028.”
There is a movement towards home-based care for the elderly, next generation scanning and MRI devices, wearable technology, artificial intelligence incorporation, and online connectivity. Experts also see a focus on predictive, preventive, personalized, participatory, and precision medicine, with rising levels of integration of home care and technological innovation.
The average cost of treatment has been rising across the board, creating additional financial burdens to governments, healthcare providers and insurance companies. According to MCG, cost-per-inpatient-stay in the United States alone rose on average annually by over 13% between 2014 to 2021, leading MedTech to focus research efforts on optimized medical equipment at lower price points, whilst emphasizing portability and ease of use. Namely, 46% of the 1,008 medical technology companies in the 2021 MedTech Innovator (“MTI”) database are focusing on prevention, wellness, detection, or diagnosis, signaling a clear push for preventive care to also tackle costs.
In addition, there has also been a lasting impact on consumer and medical demand for home care, supported by the pandemic. Lockdowns, closure of care facilities, and healthcare systems subjected to capacity pressure, accelerated demand away from traditional inpatient care. Now, outpatient care solutions are driving industry production, with nearly 70% of recent diagnostics start-up companies producing products in areas such as ambulatory clinics, at-home care, and self-administered diagnostics.
How many patients does case series should have In comparison to case reports.pdfpubrica101
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Antibiotic Stewardship by Anushri Srivastava.pptxAnushriSrivastav
Stewardship is the act of taking good care of something.
Antimicrobial stewardship is a coordinated program that promotes the appropriate use of antimicrobials (including antibiotics), improves patient outcomes, reduces microbial resistance, and decreases the spread of infections caused by multidrug-resistant organisms.
WHO launched the Global Antimicrobial Resistance and Use Surveillance System (GLASS) in 2015 to fill knowledge gaps and inform strategies at all levels.
ACCORDING TO apic.org,
Antimicrobial stewardship is a coordinated program that promotes the appropriate use of antimicrobials (including antibiotics), improves patient outcomes, reduces microbial resistance, and decreases the spread of infections caused by multidrug-resistant organisms.
ACCORDING TO pewtrusts.org,
Antibiotic stewardship refers to efforts in doctors’ offices, hospitals, long term care facilities, and other health care settings to ensure that antibiotics are used only when necessary and appropriate
According to WHO,
Antimicrobial stewardship is a systematic approach to educate and support health care professionals to follow evidence-based guidelines for prescribing and administering antimicrobials
In 1996, John McGowan and Dale Gerding first applied the term antimicrobial stewardship, where they suggested a causal association between antimicrobial agent use and resistance. They also focused on the urgency of large-scale controlled trials of antimicrobial-use regulation employing sophisticated epidemiologic methods, molecular typing, and precise resistance mechanism analysis.
Antimicrobial Stewardship(AMS) refers to the optimal selection, dosing, and duration of antimicrobial treatment resulting in the best clinical outcome with minimal side effects to the patients and minimal impact on subsequent resistance.
According to the 2019 report, in the US, more than 2.8 million antibiotic-resistant infections occur each year, and more than 35000 people die. In addition to this, it also mentioned that 223,900 cases of Clostridoides difficile occurred in 2017, of which 12800 people died. The report did not include viruses or parasites
VISION
Being proactive
Supporting optimal animal and human health
Exploring ways to reduce overall use of antimicrobials
Using the drugs that prevent and treat disease by killing microscopic organisms in a responsible way
GOAL
to prevent the generation and spread of antimicrobial resistance (AMR). Doing so will preserve the effectiveness of these drugs in animals and humans for years to come.
being to preserve human and animal health and the effectiveness of antimicrobial medications.
to implement a multidisciplinary approach in assembling a stewardship team to include an infectious disease physician, a clinical pharmacist with infectious diseases training, infection preventionist, and a close collaboration with the staff in the clinical microbiology laboratory
to prevent antimicrobial overuse, misuse and abuse.
to minimize the developme
Defecation
Normal defecation begins with movement in the left colon, moving stool toward the anus. When stool reaches the rectum, the distention causes relaxation of the internal sphincter and an awareness of the need to defecate. At the time of defecation, the external sphincter relaxes, and abdominal muscles contract, increasing intrarectal pressure and forcing the stool out
The Valsalva maneuver exerts pressure to expel faeces through a voluntary contraction of the abdominal muscles while maintaining forced expiration against a closed airway. Patients with cardiovascular disease, glaucoma, increased intracranial pressure, or a new surgical wound are at greater risk for cardiac dysrhythmias and elevated blood pressure with the Valsalva maneuver and need to avoid straining to pass the stool.
Normal defecation is painless, resulting in passage of soft, formed stool
CONSTIPATION
Constipation is a symptom, not a disease. Improper diet, reduced fluid intake, lack of exercise, and certain medications can cause constipation. For example, patients receiving opiates for pain after surgery often require a stool softener or laxative to prevent constipation. The signs of constipation include infrequent bowel movements (less than every 3 days), difficulty passing stools, excessive straining, inability to defecate at will, and hard feaces
IMPACTION
Fecal impaction results from unrelieved constipation. It is a collection of hardened feces wedged in the rectum that a person cannot expel. In cases of severe impaction the mass extends up into the sigmoid colon.
DIARRHEA
Diarrhea is an increase in the number of stools and the passage of liquid, unformed feces. It is associated with disorders affecting digestion, absorption, and secretion in the GI tract. Intestinal contents pass through the small and large intestine too quickly to allow for the usual absorption of fluid and nutrients. Irritation within the colon results in increased mucus secretion. As a result, feces become watery, and the patient is unable to control the urge to defecate. Normally an anal bag is safe and effective in long-term treatment of patients with fecal incontinence at home, in hospice, or in the hospital. Fecal incontinence is expensive and a potentially dangerous condition in terms of contamination and risk of skin ulceration
HEMORRHOIDS
Hemorrhoids are dilated, engorged veins in the lining of the rectum. They are either external or internal.
FLATULENCE
As gas accumulates in the lumen of the intestines, the bowel wall stretches and distends (flatulence). It is a common cause of abdominal fullness, pain, and cramping. Normally intestinal gas escapes through the mouth (belching) or the anus (passing of flatus)
FECAL INCONTINENCE
Fecal incontinence is the inability to control passage of feces and gas from the anus. Incontinence harms a patient’s body image
PREPARATION AND GIVING OF LAXATIVESACCORDING TO POTTER AND PERRY,
An enema is the instillation of a solution into the rectum and sig
Neonatal Onset Argininosuccinic Acidemia in a Set of Twins: A Case Report
1. International Journal of Healthcare and Medical Sciences
ISSN(e): 2414-2999, ISSN(p): 2415-5233
Vol. 5, Issue. 4, pp: 18-21, 2019
URL: https://arpgweb.com/journal/journal/13
DOI: https://doi.org/10.32861/ijhms.54.18.21
Academic Research Publishing
Group
*Corresponding Author
18
Original Research Open Access
Neonatal Onset Argininosuccinic Acidemia in a Set of Twins: A Case Report
El Wadiah Ziad
Neonatal Intensive Care unit King Abdullah Hospital Bisha, Saudi Arabia
Babatunde Kayode-Adedeji*
Department of Paediatrics, Irrua Specialist Teaching Hospital, Edo State, Nigeria
Nafiu Liadi
Neonatal Intensive Care unit King Abdullah Hospital Bisha, Saudi Arabia
Abstract
Aim: To highlight the challenge in the management of Arginosuccinic acidemia as well as demonstrate the
importance of newborn screening for inborn errors of metabolism. Method: Report of two cases of neonatal onset
ASA with encephalopathy and review of relevant literature. Conclusion: Early diagnosis and institution of
appropriate intervention can significantly improve outcome. Routine newborn metabolic screening should not only
be implemented universally, the result should be available promptly.
Keywords: Neonatal; Onset; Argininosuccinic; Aciduria.
CC BY: Creative Commons Attribution License 4.0
1. Introduction
Argininosuccinic acidemia (ASA) also known as Argininosuccinate lyase deficiency is an inborn error of
metabolism affecting the urea cycle. ASA is caused by mutations in the ASL gene (7q11.21) that encodes the enzyme
argininosuccinate lyase. This enzyme catalyzes the conversion of argininosuccinic acid into arginine and fumarate
during the fourth step of the urea cycle. Defects in this step of the urea cycle lead to an accumulation of plasma
ammonia, argininosuccinic acid, citrulline, and urinary orotic acid, and to a plasma arginine deficiency [1-3].
It is the second most common urea cycle disorder It is a potentially fatal, but treatable inborn error of
metabolism with a prevalence of 1 in 70,000 live births [2, 4]. Clinical findings are usually non-specific and similar
to those seen in infants with other inborn errors of metabolism or infections.
The disease has pleiotropic presentations, a severe neonatal form and a milder late onset form Summar, et al.
[2]. The severe neonatal form is characterized by hyperammonemia within the first few days of life with poor
feeding, vomiting, lethargy, and seizures, with subsequent progression to coma. The late onset form manifests late in
infancy or in childhood; it presents with mental retardation, vomiting, failure to thrive and behavioral problems [2, 5,
6]. The absence of specific features means that a high index of suspicion is required to make the diagnosis.
The clinical diagnosis is confirmed by measuring ammonia and argininosuccinate levels in plasma.
Long-term complications associated with both forms of ASA include chronic hepatomegaly, liver dysfunction
(fibrosis or cirrhosis), neurocognitive deficits (i.e. cognitive impairment, seizures, and developmental delay), brittle
hair (i.e. trichorrhexis nodosa), hypokalemia and arterial hypertension [4, 5].
ASA is inherited in an autosomal recessive manner and genetic counseling is advisable. Prenatal diagnosis is
possible in families with a known disease causing mutation on both alleles. Prior to the newborn screening era, the
diagnosis of late-onset ASL deficiency could be delayed by more than a year in some cases [1, 2, 4-6].
With early diagnosis and treatment, hyperammonemic episodes can be avoided but long-term complications
(neurocognitive impairment, hepatic disease and arterial hypertension) are frequent and have a negative effect on
life-expectancy and quality of life. We present fatal arginiosuccinic acidemia in a set of twins, born in a setting
where routine newborn screening was not established. We highlight the challenges in management, course and
outcome.
2. Case Summary
2.1. Case 1
We present a nine day old male late preterm neonate admitted to the neonatal intensive care unit (NICU) with a
two day history of reduced activity and poor suck. He was the second of a set of twins, born at 35 weeks gestation in
good condition with a birth weight of 2390g, to a 29-year old multigravida with a positive history of consanguinity.
He had an initially uneventful course and was discharged against medical advice after 24 hours.
At readmission, he was pink with cold extremities, hypotensive, lethargic and hypotonic. The serum ammonia
was elevated (149 umol/L), with hypoglycemia (1.3mmol/L), while the blood gas, infection markers and electrolytes
were unremarkable. Further metabolic tests were conducted on the sample at a regional tertiary centre. His initial
treatment included intravenous fluids, inotropes and empirical antibiotics. He however continued to deteriorate with
2. International Journal of Healthcare and Medical Sciences
19
onset of seizures, rising ammonia levels (peaking at 1256umol/L), until he became deeply comatose with. He had
sessions of peritoneal dialysis, while been ventilated.
His metabolic screen received on the seventh day of admission revealed elevated serum argininosuccinic acids
and citrulline, as well as argininosuccinic aciduria, in keeping with argininosuccinase deficiency (ASL). He
thereafter received arginine hydrochloride and sodium benzoate with protein free milk formula, following which he
improved progressively and was discharged after four weeks. The brain CT scan can done on admission revealed
diffuse white matter demyelination, with features of atrophy (Figure 1).
Figure-1. Brain CT showing bilateral diffuse white matter demyelination, with features of atrophy
He was followed up in a specialized tertiary hospital, therefore details of his neurodevelopment are not
provided. He however presented after 13 months in status epilepticus and subsequently died from metabolic
encephalopathy.
2.1. Case 2
We present a male neonate, first twin of case 1, delivered with a birth weight of 2150g. He was discharged home
against medical advice after 24 hours. His parents were advised to bring him for screening around day 16 of life,
following the diagnosis of ASA in twin II; however this was delayed until he became lethargic with poor feeding on
day 28 of life.
Physical examination revealed hypotonia, dehydration and pitting oedema of the lower limbs. Blood results
showed elevated levels of ammonia (787 umol/L), argininosuccinic acid and citrulline, confirming a diagnosis of
arginiosuccic acidemia (ASA). Sodium benzoate, arginine hydrochloride and protein free milk were administered
and he was discharged after three weeks.
His outpatient follow up was done in a specialist centre in another part of the country, therefore details of his
neurodevelopment are not provided.
The CT scan of the brain (Fig 2), showed white matter demyelination.
3. International Journal of Healthcare and Medical Sciences
20
Figure-2. Brain CT showing white matter demyelination
Similarly, at the age of 12 months, he was brought in dead to the hospital emergency department following
intractable seizures at home.
3. Discussion
Argininosuccinic aciduria (ASA) is a rare genetic disorder characterized by deficiency or lack of the enzyme
argininosuccinate lyase (ASL). It has an estimated prevalence of 1 in 70,000 live births [1-3].
Argininosuccininate lyase (ASL) cleaves argininosuccinic acid to yield fumarate and arginine. The lack of this
enzyme leads to the accumulation of argininosuccinic acid and ammonia in blood with concomitant argininosuccinic
aciduria [2, 4]. The early signs are usually non-specific, mimicking other common childhood problems, later,
patients present with acute life-threatening symptoms of encephalopathy and signs of central nervous system (CNS)
dysfunction due to the toxic effects of accumulating metabolites in the CNS [1, 3].
The disease displays variations in its clinical pathology with three distinct phenotypes: neonatal, subacute, and
late onset [2, 5, 6]. The index cases had the neonatal phenotype, with poor feeding and hypotonia manifesting in the
first and third weeks respectively. Case 1, had an earlier onset and more severe course than the second case, this is
likely related to the severity of hyperammonemia. Whereas case 1 had ammonia level over 1200 umol/L in the
second week of life, the second case presented with ammonia level of about 800umol/L in the fourth week. This
difference may be related to the degree of deficiency of the enzyme ASL in both cases.
The mode of inheritance of ASA is autosomal recessive; it is therefore not unusual to find it in a set of twins,
particularly in the setting of consanguinity in the parents. Antenatal testing can be beneficial where there is a positive
family history. Pijpers, et al. [7] established the diagnosis of argininosuccinic acidemia in both fetuses of a dizygotic
pregnancy, using transabdominal chorionic villus sampling at 10 weeks gestation, while Kleijer, et al. [8] have also
documented molecular prenatal diagnosis in affected families. In our case, prenatal testing was not available to the
family to make informed reproductive health choices, even after the demise of the twins.
Due to the nonspecific nature of the symptoms and the possibility for therapeutic management, ASL deficiency
is part of the recommended uniform screening panel for newborn screening in the USA [1]. The newborn screening
programme in Saudi Arabia has also been recently reviewed to include ASL deficiency, although the process is
rather time consuming.
Early administration of arginine hydrochloride and sodium benzoate for argininosuccinic acidemia cases is very
effective in reducing blood ammonia and minimizing neurological complications.
While haemodialysis is the most effective measure for treating hyperammonemia, this is not usually feasible,
therefore peritoneal dialysis is commonly done in neonates and young infants [9, 10]. Institution of prompt and
appropriate treatment before the confirmation of a diagnosis may be life-saving and will reduce the neurological
sequelae [11].
4. International Journal of Healthcare and Medical Sciences
21
Abnormal EEG and intellectual disability have been reported even in patients diagnosed and treated
appropriately from early neonatal period. The most decisive prognostic factor is the degree of cerebral damage
sustained prior to the diagnosis and treatment [11, 12].
4. Conclusion
Inborn errors of metabolism contribute to childhood morbidity and childhood mortality. Argininosuccininate
lyase deficiency is a recognized cause of encephalopathy and cerebral palsy. The presenting features are non-specific
and a high threshold of suspicion is required to make accurate diagnosis. Early diagnosis and institution of
appropriate intervention can significantly improve outcome. Routine newborn metabolic screening should not only
be implemented universally, the result should be available promptly.
References
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