Select Personality Characteristic Differences between Caregivers for Persons with Acquired Immune Deficiency Syndrome and Caregivers for Other Types of Illness.

ERIC Educational Resources Information Center

Angel, Daniel Scott; Heritage, Jeannette

The purpose of this study was to analyze select personality characteristics of individuals working within the Acquired Immune Deficiency Syndrome (AIDS) population in comparison to non-AIDS caregivers by using two personality assessment instruments. Subjects were from two health care provider populations. Two hundred research packets were…

HIV/AIDS and Pediatric AIDS. The Arc Q & A.

ERIC Educational Resources Information Center

Kowalski, Jo Anne T.

This fact sheet uses a question-and-answer format to summarize what is known about HIV/AIDS (Human Immunodeficiency Virus and Acquired Immune Deficiency Syndrome) and pediatric AIDS and applies this information to children in school settings. Questions and answers address the following topics: what the AIDS disease and HIV infection are; estimates…

Unusual thromboses associated with protein S deficiency in patients with acquired immunodeficiency syndrome: case reports and review of the literature.

PubMed

Dillmon, Melissa S; Saag, Michael S; Hamza, Sate H; Adler, Brian K; Marques, Marisa B

2005-09-01

Recent reports indicate that patients infected with HIV are at increased risk for the development of thrombosis. Among other possibilities, an acquired deficiency of protein S (PS), one of the plasma's natural anticoagulants, might explain this tendency. PS deficiency can be classified in three types depending on the levels of total and free protein (antigenic assays) as well as anticoagulant activity (functional assay). Although the prevalence of inherited PS deficiency is not known because of its rarity, several conditions can lead to acquired forms of the disease. We report two AIDS patients with coexistent type III PS deficiency and thrombosis. Our first patient presented with bilateral chronic leg ulcers and a skin biopsy revealed dermal microthromboses. On laboratory evaluation he had PS deficiency and was started on anticoagulation, but was lost to follow-up. The second patient presented with hepatic vein thrombosis (Budd-Chiari syndrome) and was also PS deficient. On long-term anticoagulation, she experienced resolution of the thrombosis. Neither patient had prior personal or family history of venous thrombosis, nor acquired risk factors such as immobility, acute infection, recent surgery, or hormonal therapy. The literature contains a few reports of skin ulcers and Budd-Chiari syndrome associated with PS deficiency, although none in AIDS patients. While a larger number of studies describe an association between PS deficiency and HIV infection, the causal effect of this deficiency on the thrombophilic tendency in AIDS has not been established. We propose that awareness of the increased risk for thrombosis in HIV infection is important to the understanding of disease pathophysiology and management of these patients.

[Relationship between vitamin D deficiency and metabolic syndrome].

PubMed

González-Molero, Inmaculada; Rojo, Gemma; Morcillo, Sonsoles; Pérez-Valero, Vidal; Rubio-Martín, Eleazara; Gutierrez-Repiso, Carolina; Soriguer, Federico

2014-06-06

Vitamin D deficiency and metabolic syndrome are 2 very common health problems in the Spanish population. It has been suggested that patients with metabolic syndrome may be vitamin D deficient more often than subjects without it and that low vitamin D levels may predispose to metabolic syndrome development. However, the results of prospective and intervention studies have been different and such relationship remains unclear. We assessed the relationship between 25-hydroxyvitamin D levels and the prevalence and incidence of metabolic syndrome. We undertook a population-based cohort study in Spain. At baseline (1996-1998), 1,226 subjects were evaluated. Follow-up visits were performed in 2002-2004 and 2005-2007.At baseline and follow-up, participants underwent an interview and a standardized clinical examination with an oral glucose tolerance test in those subjects without known diabetes. At the second visit, 25-hydroxyvitamin D levels and intact parathyroid hormone levels were measured. The prevalence of metabolic syndrome at the second and third visit was 29.4 and 42.5%, respectively. Mean levels of 25-hydroxyvitamin D were lower in subjects with metabolic syndrome: 21.7 (6.21) vs 23.35 (6.29) ng/ml, P<.001.The prevalence of vitamin D deficiency (25-hydroxyvitamin D<20 ng/ml) at the second evaluation was 34.7%, with significant differences between subjects with and without metabolic syndrome(34.6 vs 26.5%, P<.01). Men with vitamin D deficiency had more frequently hypertension and metabolic syndrome than men with normal levels. Women with vitamin D deficiency had more frequently hyperglycemia, hypertension, increased waist circumference and hypertriglyceridemia. In a prospective study, 25-hydroxyvitamin D values<20 ng/ml were not significantly associated with an increased risk of developing metabolic syndrome in the next 5 years (odds ratio 0,99, 95% confidence interval 0.57-1.7, P=.97) after adjusting by sex and age. Vitamin D deficiency is associated with an

Physicians Mutual Aid Group: A Response to AIDS-Related Burnout.

ERIC Educational Resources Information Center

Garside, Bruce

1993-01-01

Describes origins and functioning of physician's mutual aid group for physicians providing primary care to people with Acquired Immune Deficiency Syndrome (AIDS). Offers suggestions related to overcoming resistance physicians might have to participating in such a group and reviews modalities that were helpful in facilitating participants' ability…

Answering Your Questions about AIDS.

ERIC Educational Resources Information Center

Kalichman, Seth C.

This book focuses on AIDS education and answers 350 commonly asked questions about Human Immunodeficiency Virus (HIV) and Acquired Immune Deficiency Syndrome (AIDS) taken from questions addressed to two major urban AIDS hotlines (Milwaukee, Wisconsin, and Houston, Texas). Chapter 1, "HIV - The Virus That Causes AIDS," discusses: the HIV…

AIDS: Education's New Dilemma.

ERIC Educational Resources Information Center

Freeland, D. Kay; Faber, Charles F.

The acquired immune deficiency syndrome (AIDS) is an incurable, fatal disease that is caused by a virus that eventually destroys the body's immune system. While AIDS is contagious, the risk of contracting AIDS through casual contact is said to be negligible. A review of the court cases involving students with AIDS reveals that the precedent has…

AIDS Education Curriculum Guide.

ERIC Educational Resources Information Center

Horry County Board of Education, Conway, SC.

This curriculum guide was developed, based on sound principles of human growth and development, to present the most recently available information on AIDS (Acquired Immune Deficiency Syndrome). The curriculum presents information on the known facts about AIDS and the AIDS virus infection. It also addresses the potential for adolescents and adults…

Myoadenylate deaminase deficiency, hypertrophic cardiomyopathy and gigantism syndrome.

PubMed

Skyllouriotis, M L; Marx, M; Bittner, R E; Skyllouriotis, P; Gross, M; Wimmer, M

1997-07-01

We report a 20-year-old man with gigantism syndrome, hypertrophic cardiomyopathy, muscle weakness, exercise intolerance, and severe psychomotor retardation since childhood. Histochemical and biochemical analysis of skeletal muscle biopsy revealed myoadenylate deaminase deficiency; molecular genetic analysis confirmed the diagnosis of primary (inherited) myoadenylate deaminase deficiency. Plasma, urine, and muscle carnitine concentrations were reduced. L-Carnitine treatment led to gradual improvement in exercise tolerance and cognitive performance; plasma and tissue carnitine levels returned to normal, and echocardiographic evidence of left ventricular hypertrophy disappeared. The combination of inherited myoadenylate deaminase deficiency, gigantism syndrome and carnitine deficiency has not previously been described.

Iron Deficiency in Autism and Asperger Syndrome.

ERIC Educational Resources Information Center

Latif, A.; Heinz, P.; Cook, R.

2002-01-01

Retrospective analysis of the full blood count and, when available, serum ferritin measurements of 96 children (52 with autism and 44 with Asperger syndrome) found six autistic children had iron deficiency and 12 of the 23 autistic children with serum ferritin measures were iron deficient. Far fewer Asperger children were iron deficient. Results…

AIDS: Children Too.

ERIC Educational Resources Information Center

Lejeune, Genevieve, Ed.

1994-01-01

This journal issue is devoted to the many problems faced by children with Acquired Immune Deficiency Syndrome (AIDS) who live in both developing and developed countries. Section 1 provides general information on the pandemic, defining AIDS and exploring the social aspects of the disease. It also addresses child health, child mortality, moral and…

Knowledge and attitude of Indian clinical dental students towards the dental treatment of patients with human immunodeficiency virus (HIV)/acquired immune-deficiency syndrome (AIDS).

PubMed

Oberoi, Sukhvinder Singh; Marya, Charu Mohan; Sharma, Nilima; Mohanty, Vikrant; Marwah, Mohita; Oberoi, Avneet

2014-12-01

Oral health care of patients with human immunodeficiency virus (HIV)/acquired immune-deficiency syndrome (AIDS) is a growing area of concern. Information on HIV- and AIDS-related knowledge among dental students provides a crucial foundation for efforts aimed at developing an appropriate dental curriculum on HIV and AIDS. The purpose of this study was to assess the knowledge and attitude of Indian clinical dental students towards the treatment of patients with HIV/AIDS and perceived sources of information regarding HIV-related issues. Data were collected from clinical dental students (third year, fourth year and internship) from three dental institutions in Delhi National Capital Region (NCR). The questions assessed the knowledge and attitude towards treatment of patients with HIV and the perceived source of information related to HIV. The willingness to treat HIV-positive patients among dental students was 67.0%, and 74.20% were confident of treating a patient with HIV/AIDS. The potential problems in rendering treatment to these patients were effect on the attitude of other patients (49.90%) and staff fears (52.50%). The correct knowledge regarding the infection-control practice (barrier technique) was found among only 15.50% of respondents. The respondents had sufficient knowledge regarding the oral manifestations of HIV/AIDS. There was no correlation between the knowledge and attitude score, demonstrating a gap between knowledge and attitude among dental students regarding treatment of HIV-infected patients. Appropriate knowledge has to be delivered through the dental education curriculum, which can instil confidence in students about their ability to manage HIV-positive patients. © 2014 FDI World Dental Federation.

AIDS in the Workplace: What Can Be Done?

ERIC Educational Resources Information Center

Masi, Dale A.

1987-01-01

Discusses the legal ramifications for employers concerning acquired immune deficiency syndrome (AIDS). Suggests that employers should have in place an AIDS policy that addresses such issues as AIDS testing, employee assistance programs, and health insurance coverage. (CH)

Bartter syndrome and growth hormone deficiency: three cases.

PubMed

Buyukcelik, Mithat; Keskin, Mehmet; Kilic, Beltinge Demircioglu; Kor, Yilmaz; Balat, Ayse

2012-11-01

Bartter syndrome is a rare autosomal recessive disorder characterized by hypokalemia, salt loss, and metabolic alkalosis. Short stature is one of the clinical manifestations in these children. Although polyuria, polydipsia, hypokalemia, and salt loss may be responsible for growth retardation, the exact pathogenesis of short stature in Bartter syndrome is not known. In this study, we present three children diagnosed as having Bartter syndrome with short stature and growth hormone (GH) deficiency. After recombinant human growth hormone therapy (rhGH), their growth velocities were improved. These results indicate that GH deficiency may contribute to short stature in children with Bartter syndrome, and rhGH therapy would be an excellent adjunctive treatment for short children with this syndrome whose condition is resistant to conventional therapies in terms of growth.

AIDS Epidemiological models

NASA Astrophysics Data System (ADS)

Rahmani, Fouad Lazhar

2010-11-01

The aim of this paper is to present mathematical modelling of the spread of infection in the context of the transmission of the human immunodeficiency virus (HIV) and the acquired immune deficiency syndrome (AIDS). These models are based in part on the models suggested in the field of th AIDS mathematical modelling as reported by ISHAM [6].

Suicide Inhibitors of Reverse Transcriptase in the Therapy of AIDS and Other Retroviruses

DTIC Science & Technology

1989-07-01

Acquired Immun Deficiency Syndrome (AIDS) (7-8). The most recent evaluation of the AIDS epidemic in the U.S. (4) indicates that the currer total of...are shown below. One of the first, [N-(L-3-tran carboxyxiran-2-carbonyl)-L-leucyl]-amido (4-guanido) butane was isolated from Asperg /II japonicus and...risk of acquired immune deficiency syndrome (AIDS). Science. 2.4: 497- 500 (1983). 9. Kopkrowski H., De Freitas E.C., Harper M.E., Woliheim S.M

Evaluating AIDS Prevention: Contributions of Multiple Disciplines.

ERIC Educational Resources Information Center

Leviton, Laura C., Ed.; And Others

1990-01-01

Seven essays on efforts of evaluate prevention programs aimed at the acquired immune deficiency syndrome (AIDS) are presented. Topics include public health psychology, mathematical models of epidemiology, estimates of incubation periods, ethnographic evaluations of AIDS prevention programs, an AIDS education model, theory-based evaluation, and…

[Constitutional mismatch repair deficiency syndrome].

PubMed

Jongmans, Marjolijn C; Gidding, Corrie E; Loeffen, Jan; Wesseling, Pieter; Mensenkamp, Arjen; Hoogerbrugge, Nicoline

2015-01-01

Constitutional mismatch repair deficiency (CMMR-D) syndrome is characterised by a significantly increased risk for developing cancer in childhood. It arises when both parents have a mutation in the same mismatch repair gene and pass it on to their child. An 8-year-old girl was diagnosed with CMMR-D syndrome after she developed a brain tumour at the age of 4 and a T-cell non-Hodgkin lymphoma at the age of 6. She had multiple hyperpigmented skin lesions and died of myelodysplastic syndrome at the age of 11. In children with cancer CMMR-D syndrome can be recognized particularly if there are multiple primary malignancies and skin hyperpigmentations and hypopigmentations. The parents of these children are at high risk for colorectal and endometrial cancer (Lynch syndrome), amongst others.

Psychological Impact of AIDS on Children.

ERIC Educational Resources Information Center

Belfer, Myron L.

There are at least three aspects to the psychological impact of acquired immune deficiency syndrome (AIDS) on children. First is the psychological response of the child with AIDS; second, the response of the child in a group at high risk for AIDS; and third, the psychological response of children in general to the perceived threat from AIDS.…

The AIDS Challenge: Prevention Education for Young People.

ERIC Educational Resources Information Center

Quackenbush, Marcia, Ed.; And Others

This book on Acquired Immune Deficiency Syndrome (AIDS) education was developed by national and international experts to aid educators, professionals, parents, and youth leaders in developing and implementing AIDS education programs. Included are: (1) "Living with AIDS" (Jack Martin Balcer); (2) "The AIDS Epidemic: Problems in Limiting Its Impact"…

Mismatch repair deficiency commonly precedes adenoma formation in Lynch Syndrome-Associated colorectal tumorigenesis.

PubMed

Sekine, Shigeki; Mori, Taisuke; Ogawa, Reiko; Tanaka, Masahiro; Yoshida, Hiroshi; Taniguchi, Hirokazu; Nakajima, Takeshi; Sugano, Kokichi; Yoshida, Teruhiko; Kato, Mamoru; Furukawa, Eisaku; Ochiai, Atsushi; Hiraoka, Nobuyoshi

2017-08-01

Lynch syndrome is a cancer predisposition syndrome caused by germline mutations in mismatch repair (MMR) genes. MMR deficiency is a ubiquitous feature of Lynch syndrome-associated colorectal adenocarcinomas; however, it remains unclear when the MMR-deficient phenotype is acquired during tumorigenesis. To probe this issue, the present study examined genetic alterations and MMR statuses in Lynch syndrome-associated colorectal adenomas and adenocarcinomas, in comparison with sporadic adenomas. Among the Lynch syndrome-associated colorectal tumors, 68 of 86 adenomas (79%) and all adenocarcinomas were MMR-deficient, whereas all the sporadic adenomas were MMR-proficient, as determined by microsatellite instability testing and immunohistochemistry for MMR proteins. Sequencing analyses identified APC or CTNNB1 mutations in the majority of sporadic adenomas (58/84, 69%) and MMR-proficient Lynch syndrome-associated adenomas (13/18, 72%). However, MMR-deficient Lynch syndrome-associated adenomas had less APC or CTNNB1 mutations (25/68, 37%) and frequent frameshift RNF43 mutations involving mononucleotide repeats (45/68, 66%). Furthermore, frameshift mutations affecting repeat sequences constituted 14 of 26 APC mutations (54%) in MMR-deficient adenomas whereas these frameshift mutations were rare in MMR-proficient adenomas in patients with Lynch syndrome (1/12, 8%) and in sporadic adenomas (3/52, 6%). Lynch syndrome-associated adenocarcinomas exhibited mutation profiles similar to those of MMR-deficient adenomas. Considering that WNT pathway activation sufficiently drives colorectal adenoma formation, the distinct mutation profiles of WNT pathway genes in Lynch syndrome-associated adenomas suggest that MMR deficiency commonly precedes adenoma formation.

"Repellent and Shameful": The Portrayal of AIDS in "America Responds to AIDS" Broadcast Public Service Announcements, 1987-1992.

ERIC Educational Resources Information Center

Swanson, Douglas J.

To address a need for increased discussion of the dangers of Acquired Immune Deficiency Syndrome (AIDS) and an increased educative effort to prevent people from acquiring HIV infection, a study investigated one element of an AIDS campaign of the past: the "America Responds to AIDS" television and radio public service announcements…

Living with HIV/AIDS in School.

ERIC Educational Resources Information Center

Sedletter, 1993

1993-01-01

This newsletter article is concerned with understanding what schools can and must do to sustain life in the age of human immunodeficiency virus and Acquired Immune Deficiency Syndrome (HIV/AIDS). The article looks at the incidence of AIDS and reviews legislation related to AIDS infection and school attendance. School policy as it relates to…

An ongoing tragedy: the acquired immune deficiency syndrome (AIDS).

PubMed

Desai, B T

1989-01-01

The AIDS epidemic has, to date, had only a minimal impact in India; however, given the low health status of the population and the lack of adequate health care facilities, the emergence of AIDS on a wider scale would be devastating. India's human immunodeficiency virus (HIV) seropositivity rate now stands at about 2-3/1000 people tested. In what is suspected to be a racially motivated move, the Government of India has embarked on testing all foreign students (most of whom are from Africa) for HIV and is returning all those who test seropositive to their countries of origin. Of concern is the steady increase in HIV infection in professional blood donors (1.5/1000 in late 1988). Mandatory screening of donated blood is prohibitively expensive in India, and none of the 9 companies that manufacture blood products in India test their donors for HIV infection. Another concern is the finding that 1 of every 6 prostitutes in Bombay is infected with HIV. The response of the Indian Government to the AIDS threat has tended to be punitive toward AIDS victims rather than based on a sound preventive strategy. For example, the 1989 AIDS Prevention Bill forces individuals who are infected with HIV to reveal their past sexual partners, empowers authorities to hospitalize AIDS victims and drug addicts, and contains no provisions to protect the human and civil rights of AIDS victims. The mass media have treated AIDS in a sensationalized manner rather than presenting scientific information about the prevention and transmission of the disease. It is essential that the Government of India--and all world governments--realize that punitive measures will do little to reduce the spread of AIDS. Needed, instead, is a global prevention and control effort based on generosity and compassion.

Development of a Sensitive DNA Assay for the AIDS Virus, HTLV-III/LAV

DTIC Science & Technology

1989-11-19

lylphadenopathy syndrome, acquired immuno- deficiency disease syndrome (AIDS)-related complex (ARC) (including night sweats, fever, diarrhea, weight loss, oral ... candidiasis ), or AIDS (including neurological disease, opportunistic infections, or malignancies) (1). A signifi- cant number of infected individuals

Creatine deficiency syndromes.

PubMed

Schulze, Andreas

2013-01-01

The lack of creatine in the central nervous system causes a severe but treatable neurological disease. Three inherited defects, AGAT, GAMT, and CrT deficiency, compromising synthesis and transport of creatine have been discovered recently. Together these so-called creatine deficiency syndromes (CDS) might represent the most frequent metabolic disorders with a primarily neurological phenotype. Patients with CDS present with global developmental delays, mental retardation, speech impairment especially affecting active language, seizures, extrapyramidal movement disorder, and autism spectrum disorder. The two defects in the creatine synthesis, AGAT and GAMT, are autosomal recessive disorders. They can be diagnosed by analysis of the creatine, guanidinoacetate, and creatinine in body fluids. Treatment is available and, especially when introduced in infancy, has a good outcome. The defect of creatine transport, CrT, is an X-linked condition and perhaps the most frequent reasons for X-linked mental retardation. Diagnosis is made by an increased ratio of creatine to creatinine in urine, but successful treatment still needs to be explored. CDS are under-diagnosed because easy to miss in standard diagnostic workup. Because CDS represent a frequent cause of cognitive and neurological impairment that is treatable they warrant consideration in the workup for genetic mental retardation syndromes, for intractable seizure disorders, and for neurological diseases with a predominant lack of active speech. Copyright © 2013 Elsevier B.V. All rights reserved.

DNA mismatch repair protein deficient non-neoplastic colonic crypts: a novel indicator of Lynch syndrome.

PubMed

Pai, Rish K; Dudley, Beth; Karloski, Eve; Brand, Randall E; O'Callaghan, Neil; Rosty, Christophe; Buchanan, Daniel D; Jenkins, Mark A; Thibodeau, Stephen N; French, Amy J; Lindor, Noralane M; Pai, Reetesh K

2018-06-08

Lynch syndrome is the most common form of hereditary colorectal carcinoma. However, establishing the diagnosis of Lynch syndrome is challenging, and ancillary studies that distinguish between sporadic DNA mismatch repair (MMR) protein deficiency and Lynch syndrome are needed, particularly when germline mutation studies are inconclusive. The aim of this study was to determine if MMR protein-deficient non-neoplastic intestinal crypts can help distinguish between patients with and without Lynch syndrome. We evaluated the expression of MMR proteins in non-neoplastic intestinal mucosa obtained from colorectal surgical resection specimens from patients with Lynch syndrome-associated colorectal carcinoma (n = 52) and patients with colorectal carcinoma without evidence of Lynch syndrome (n = 70), including sporadic MMR protein-deficient colorectal carcinoma (n = 30), MMR protein proficient colorectal carcinoma (n = 30), and "Lynch-like" syndrome (n = 10). MMR protein-deficient non-neoplastic colonic crypts were identified in 19 of 122 (16%) patients. MMR protein-deficient colonic crypts were identified in 18 of 52 (35%) patients with Lynch syndrome compared to only 1 of 70 (1%) patients without Lynch syndrome (p < 0.001). This one patient had "Lynch-like" syndrome and harbored two MSH2-deficient non-neoplastic colonic crypts. MMR protein-deficient non-neoplastic colonic crypts were not identified in patients with sporadic MMR protein-deficient or MMR protein proficient colorectal carcinoma. Our findings suggest that MMR protein-deficient colonic crypts are a novel indicator of Lynch syndrome, and evaluation for MMR protein-deficient crypts may be a helpful addition to Lynch syndrome diagnostics.

Attitudes of Dental Faculty toward Individuals with AIDS.

ERIC Educational Resources Information Center

Cohen, Leonard A.; Grace, Edward G., Jr.

1989-01-01

A survey of one dental school's faculty concerning attitudes toward homosexual or heterosexual patients with either Acquired Immune Deficiency Syndrome (AIDS) or leukemia found significant negative biases both toward individuals with AIDS and toward homosexuals. (MSE)

Acute thiamine deficiency and refeeding syndrome: Similar findings but different pathogenesis.

PubMed

Maiorana, Arianna; Vergine, Gianluca; Coletti, Valentina; Luciani, Matteo; Rizzo, Cristiano; Emma, Francesco; Dionisi-Vici, Carlo

2014-01-01

Refeeding syndrome can occur in several contexts of relative malnutrition in which an overaggressive nutritional support is started. The consequences are life threatening with multiorgan impairment, and severe electrolyte imbalances. During refeeding, glucose-involved insulin secretion causes abrupt reverse of lipolysis and a switch from catabolism to anabolism. This creates a sudden cellular demand for electrolytes (phosphate, potassium, and magnesium) necessary for synthesis of adenosine triphosphate, glucose transport, and other synthesis reactions, resulting in decreased serum levels. Laboratory findings and multiorgan impairment similar to refeeding syndrome also are observed in acute thiamine deficiency. The aim of this study was to determine whether thiamine deficiency was responsible for the electrolyte imbalance caused by tubular electrolyte losses. We describe two patients with leukemia who developed acute thiamine deficiency with an electrolyte pattern suggestive of refeeding syndrome, severe lactic acidosis, and evidence of proximal renal tubular dysfunction. A single thiamine administration led to rapid resolution of the tubular dysfunction and normalization of acidosis and electrolyte imbalance. This demonstrated that thiamine deficiency was responsible for the electrolyte imbalance, caused by tubular electrolyte losses. Our study indicates that, despite sharing many laboratory similarities, refeeding syndrome and acute thiamine deficiency should be viewed as separate entities in which the electrolyte abnormalities reported in cases of refeeding syndrome with thiamine deficiency and refractory lactic acidosis may be due to renal tubular losses instead of a shifting from extracellular to intracellular compartments. In oncologic and malnourished patients, individuals at particular risk for developing refeeding syndrome, in the presence of these biochemical abnormalities, acute thiamine deficiency should be suspected and treated because it promptly

AIDS: acquired immunodeficiency syndrome.

PubMed Central

Gilmore, N. J.; Beaulieu, R.; Steben, M.; Laverdière, M.

1983-01-01

Acquired immunodeficiency syndrome, or AIDS, is a new illness that occurs in previously healthy individuals. It is characterized by immunodeficiency, opportunistic infections and unusual malignant diseases. Life-threatening single or multiple infections with viruses, mycobacteria, fungi or protozoa are common. A rare neoplasm, Kaposi's sarcoma, has developed in approximately one third of patients with AIDS. More than 800 cases of AIDS have been reported in North America, over 24 of them in Canada. The majority of patients are male homosexuals, although AIDS has also developed in abusers of intravenously administered drugs, Haitian immigrants, individuals with hemophilia, recipients of blood transfusions, prostitutes, and infants, spouses and partners of patients with AIDS. The cause of AIDS is unknown, but the features are consistent with an infectious process. Early diagnosis can be difficult owing to the nonspecific symptoms and signs of the infections and malignant diseases. Therefore, vigilance by physicians is of utmost importance. PMID:6342737

AIDS: acquired immunodeficiency syndrome *

PubMed Central

Gilmore, N.J.; Beaulieu, R.; Steben, M.; Laverdière, M.

1992-01-01

Acquired immunodeficiency syndrome, or AIDS, is a new illness that occurs in previously healthy individuals. It is characterized by immunodeficiency, opportunistic infections and unusual malignant diseases. Life-threatening single or multiple infections with viruses, mycobacteria, fungi or protozoa are common. A rare neoplasm, Kaposi's sarcoma, has developed in approximately one third of patients with AIDS. More than 800 cases of AIDS have been reported in North America, over 24 of them in Canada. The majority of patients are male homosexuals, although AIDS has also developed in abusers of intravenously administered drugs, Haitian immigrants, individuals with hemophilia, recipients of blood transfusions, prostitutes, and infants, spouses and partners of patients with AIDS. The cause of AIDS is unknown, but the features are consistent with an infectious process. Early diagnosis can be difficult owing to the nonspecific symptoms and signs of the infections and malignant diseases. Therefore, vigilance by physicians is of the utmost importance. PMID:1544049

The Influence of Homophobia and Knowledge of AIDS on Empathy for Persons with AIDS.

ERIC Educational Resources Information Center

Walters, Andrew S.

There has been considerable variation in reports of how much people know about Acquired Immune Deficiency Syndrome (AIDS). This study explored empathy towards persons with AIDS. The first part of the study involved pretesting subjects on two scales. Data were collected from 125 male and 125 female college students. A factor analysis revealed there…

Baraitser and Winter syndrome with growth hormone deficiency.

PubMed

Chentli, Farida; Zellagui, Hadjer

2014-01-01

Baraitser-Winter syndrome (BWS), first reported in 1988, is apparently due to genetic abnormalities that are still not well-defined, although many gene abnormalities are already discovered and de novo missense changes in the cytoplasmic actin-encoding genes (called ACTB and ACTG1) have been recently discovered. The syndrome combines facial and cerebral malformations. Facial malformations totally or partially present in the same patient are: Iris coloboma, bilateral ptosis, hypertelorism, broad nasal bridge, and prominent epicanthic folds. The various brain malformations are probably responsible for growth and mental retardation. To the best of our knowledge, the syndrome is very rare as few cases have been reported so far. Our aim was to describe a child with a phenotype that looks like BWS with proved partial growth hormone (GH) deficiency which was not reported before. A girl aged 7-year-old of consanguineous parents was referred for short stature and mental retardation. Clinical examination showed dwarfism and a delay in her mental development. Other clinical features included: Strabismus, epicanthic folds, broad nasal bridge, and brain anomalies such as lissencephaly, bilateral hygroma, and cerebral atrophy. Hormonal assessment showed partial GH deficiency without other endocrine disorders. Our case looks exactly like BWS. However, apart from facial and cerebral abnormalities, there is a partial GH deficiency which can explain the harmonious short stature. This case seems worth to be reported as it adds GH deficiency to the very rare syndrome.

[Impedance characteristics of ear acupoints in identifying excess or deficiency syndrome of stroke].

PubMed

Wang, Pin; Yang, Hua-Yuan; Wang, Yi-Qin

2010-06-01

To explore the impedance characteristics of ear acupoints in stroke patients with excess or deficiency syndrome, and to provide basis data for objective study of the syndromes of stroke. The data of electrical characteristics of ear acupoints in stroke patients and healthy people were collected, and excess syndrome and deficiency syndrome of stroke were identified by quantifying the syndromes of stroke using scales. The differences in impedance characteristics of ear acupoints between stroke patients and healthy people were analyzed, and the differences in impedance characteristics of ear acupoints between stroke patients with excess syndrome and stroke patients with deficiency syndrome were analyzed too. The correlation among impedance characteristics of ear acupoints, stroke and the syndromes was also analyzed. There were significant differences in impedance characteristics of ear acupoints between stroke patients and healthy people (P<0.05,P<0.01). The ear acupoints CO12 (Gan) and CO13 (Pi) had a significant role in diagnosing stroke as compared with CO18 (Neifenmi), AT3.4.AH12i (Naogan), CO10 (Shen), TG2p (Shenshangxian), AH6a (Jiaogan), AT4 (Pizhixia), and CO15 (Xin). There were significant differences in impedance characteristics of ear acupoints between stroke patients with excess syndrome and stroke patients with deficiency syndrome (P<0.05, P<0.01). The ear acupoints AH6a (Jiaogan) and CO10 (Shen) played an important role in differentiation diagnosis of excess syndrome and deficiency syndrome of stroke, followed by CO18 (Neifenmi), TF4 (Shenmen) and TG2p (Shenshangxian). Some ear acupoints with diagnostic value for stroke may provide basis of objective research for stroke diagnosis as well as identifying excess syndrome and deficiency syndrome of stroke.

Students with AIDS. A Legal Memorandum.

ERIC Educational Resources Information Center

Strope, John L., Jr.; Broadwell, Cathy Allen

When confronted with a student with acquired immune deficiency syndrome (AIDS), administrators must act very cautiously. In addition to the public relations and political problems asociated with students with AIDS, administrators are faced with the legal implications of their decisions; their actions, if uninformed, can result in monetary…

Counseling Roles and AIDS. Highlights: An ERIC/CAPS Digest.

ERIC Educational Resources Information Center

Wilson, Thomas C.

This fact sheet considers the counselor's role in dealing with Acquired Immune Deficiency Syndrome (AIDS). Three counselor roles are examined: (1) direct counseling for those affected by AIDS; (2) coordination of support systems for victims of AIDS; and (3) education. Seven recommendations for health professionals dealing with AIDS patients are…

[Study on qi deficiency syndrome distribution and quality of life in patients with advanced non-small cell lung cancer].

PubMed

Yuan, Lin; Zhang, Pei-tong; Yang, Zong-yan

2011-07-01

To study the qi deficiency syndrome distribution and quality of life (QOL) of patients with advanced non-small cell lung cancer (NSCLC). A questionnaire survey was conducted in 120 patients with advanced NSCLC using the QOL scale "Functional Assessment of Cancer Therapy" (FACT-L) (Version 4.0). Meanwhile, syndrome typing was performed. On the basis of results of syndrome typing, patients of different syndrome types were grouped and compared, thus studying the distribution of advanced NSCLC patients of qi deficiency syndrome and qi deficiency syndrome correlated QOL features. Qi deficiency, blood stasis, yin deficiency, phlegm and dampness dominated in syndrome types of the 120 patients with advanced NSCLC. Of syndrome types accounting for larger ratios in 112 patients, pure qi deficiency syndrome accounted for 30.36% (34 cases), qi deficiency and blood stasis syndrome for 18. 75% (21 cases), both qi and yin deficiency syndrome for 10. 71% (12 cases). There was no correlation between the appearance of qi deficiency syndrome and patients' age, sex, pathological typing (adenocarcinoma/squamous carcinoma), or the disease duration. NSCLC patients in phase IV were mostly complicated with qi deficiency syndrome (P<0.05). Scores of physical states, emotional states, functional states, and total scores in the FACT-L scale were lower in those complicated with qi deficiency syndrome (89 cases) than in those without complicated qi deficiency syndrome (31 cases), showing statistical difference (P<0.01, P<0.05). The scores of the lung cancer specific module (additional concerns) in the FACT-L scale showed statistical difference, sequenced as qi deficiency and blood stasis syndrome > pure qi deficiency syndrome > both qi and yin deficiency syndrome (P<0.05). Qi deficiency syndrome is the main syndrome of advanced NSCLC. The QOL of advanced NSCLC patients complicated with qi deficiency syndrome was poorer than those without complicated qi deficiency syndrome. Besides, along with

HIV/AIDS Education Program Grades 6-12.

ERIC Educational Resources Information Center

Arizona State Dept. of Education, Phoenix.

The five chapters in this manual outline a Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome (HIV/AIDS) education program for grades 6-12. The first chapter asks why HIV education should be taught in the primary grades, discusses who should teach HIV/AIDS education, and presents facts about adolescents and AIDS. Chapter 2 furnishes:…

AIDS Information and Opinion Survey.

ERIC Educational Resources Information Center

Apple Library Users Group, Cupertino, CA.

In spring 1989, a study was conducted at Catonsville Community College to assess the attitudes and knowledge of students, faculty, and staff regarding Acquired Immune Deficiency Syndrome (AIDS) and to determine whether further education regarding AIDS was needed at the college. A survey was administered to all faculty and staff and to students in…

Adolescents' Thoughts and Feelings about AIDS in Relation to Cognitive Maturity.

ERIC Educational Resources Information Center

Peterson, Candida C.; Murphy, Lisa

1990-01-01

Studied adolescents' (N=163) formal operational reasoning in relation to Acquired Immune Deficiency Syndrome (AIDS) knowledge, AIDS fear, sexual knowledge, and reactions to AIDS victims. Found that advanced reasoning predicted better AIDS knowledge and general sexual knowledge. Advanced reasoning and AIDS knowledge were also linked with heightened…

Rational Suicide and AIDS: Considerations for the Psychotherapist.

ERIC Educational Resources Information Center

Werth, James L., Jr.

1992-01-01

Reviews literature on suicide and terminal illnesses. Examines suicide rate for persons with Acquired Immune Deficiency Syndrome (AIDS). Explores physical and psychosocial factors that may contribute to decision by person with AIDS to commit suicide. Applies Siegel's criteria for rational suicide to case of person with AIDS. Examines role of…

Stigma, HIV and AIDS: An Exploration and Elaboration of the Illness Trajectory Surrounding HIV Infection and AIDS.

ERIC Educational Resources Information Center

Alonzo, Angelo A.; Reynolds, Nancy R.

In this paper, human immunodeficiency virus (HIV) and Acquired Immune Deficiency Syndrome (AIDS) are analyzed in terms of stigma and illness trajectory. The primary purpose is to conceptualize how individuals with HIV/AIDS experience stigma and to demonstrate how these experiences are affected by the social and biophysical dimensions of the…

Toxoplasmosis myelopathy and myopathy in an AIDS patient: a case of immune reconstitution inflammatory syndrome?

PubMed

Kung, Doris Hichi; Hubenthal, Erica A; Kwan, Justin Y; Shelburne, Samuel A; Goodman, Jerry C; Kass, Joseph S

2011-01-01

concurrent toxoplasmosis infection of the brain, spinal cord, and muscle has never been reported together in a patient antemortem. Toxoplasma gondii is the most common focal central nervous system opportunistic infection in the acquired immune deficiency syndrome (AIDS) population. Despite this fact, isolated toxoplasmosis infection in the spinal cord is rarely reported. In addition, toxoplasmic myositis is also rarely diagnosed and Toxoplasma cysts are seldom found on biopsy. We present a patient with AIDS and toxoplasmosis resistant to standard anti-Toxoplasma therapy. a 34-year-old man with a history of untreated AIDS presented with symptoms of myelopathy. Pathologically proven toxoplasmosis of the spinal cord was diagnosed and no brain lesions were found. However, despite appropriate treatment and initiation of highly active antiretroviral therapy, the patient developed worsening symptoms, including myopathy and autonomic instability. Muscle biopsy revealed Toxoplasma cysts, and there was laboratory evidence of a restored immune system. we report the first case of toxoplasmosis presenting initially with myelitis in the absence of encephalitis that subsequently progressed to myositis despite antiparasitic treatment. We also discuss the possibility of immune reconstitution inflammatory syndrome as a cause of his deterioration.

School-Based HIV-AIDS Education in Canada.

ERIC Educational Resources Information Center

Allan, Margaret C.

Health and education matters in Canada are the responsibility of the government of each individual province. These opportunities for improvement in the Canadian system regarding Acquired Immune Deficiency Syndrome (AIDS) education exist. First, a nationally standardized curriculum is needed. Second, more time allocated for AIDS education is…

"Does AIDS Hurt?": Educating Young Children about AIDS. Suggestions for Parents, Teachers, and Other Care Providers of Children to Age 10.

ERIC Educational Resources Information Center

Quackenbush, Marcia; Villarreal, Sylvia

This document gives parents, teachers, and others basic information and suggested guidelines for teaching children aged 10 and younger about Acquired Immune Deficiency Syndrome (AIDS). These topics concerning AIDS and young children are discussed: (1) talking with young children about AIDS; (2) things to keep in mind when talking with children,…

Illness Cognition and Responses to AIDS.

ERIC Educational Resources Information Center

Bishop, George D.

Along with the current epidemic of Acquired Immune Deficiency Syndrome (AIDS) has come what some have called an epidemic of fear. Two studies were conducted to explore lay responses to AIDS from the perspective of recent research on how lay people process illness information. The research examines the cognitive organization of disease information…

Death and AIDS: A Review of the Medico-Legal Literature.

ERIC Educational Resources Information Center

Huber, Jeffrey T.

1993-01-01

Notes that diagnosis of Acquired Immune Deficiency Syndrome (AIDS) continues to denote death sentence. Contends that AIDS is unique terminal illness in that no other single disease in history of American legal system has generated more litigation than AIDS. Examines medico-legal issues associated with AIDS-related death: estate planning,…

AIDS: How We Kept the Kids in School and Averted a Panic [and] Review These Guidelines on Handling Students with AIDS.

ERIC Educational Resources Information Center

Hagerty, Paul J.; Rist, Marilee C.

1986-01-01

A chronological report of how the school district responded when two students were identified as having been exposed to the Acquired Immune Deficiency Syndrome (AIDS) virus. A summary of the Center for Disease Control guidelines for handling students with AIDS is included. (MLF)

Training Medical Professionals in the Prevention and Intervention of AIDS.

ERIC Educational Resources Information Center

Bander, Ricki S.

Most physicians can expect to counsel a family or individual concerned about possible exposure to acquired immue deficiency syndrome (AIDS). Medical professionals need comprehensive AIDS training and educational programs which cover medical, epidemiologic, psychosocial, and neuropsychiatric aspects of AIDS. Counseling psychologists can provide a…

Behavioral Risk Factors for AIDS among Adolescents.

ERIC Educational Resources Information Center

Millstein, Susan G.

This document examines the incidence of Acquired Immune Deficiency Syndrome (AIDS) among adolescents in the United States and identifies several risk factors for AIDS among this population. It classifies adolescents' risk for contracting human immunodeficiency virus (HIV) infection by the degree to which adolescents engage in behaviors that are…

AIDS Education Curriculum Guide. Grades 7-10. Bulletin 1827, 1988.

ERIC Educational Resources Information Center

Louisiana State Dept. of Education, Baton Rouge.

This curriculum guide on acquired immune deficiency syndrome (AIDS) was developed for students at the junior high school level. There are five major sections: (1) introduction, an overview of AIDS; (2) an overview of the history of AIDS; (3) basic immunology; (4) the effects of AIDS on the host; and (5) prevention of AIDS. The appendices include…

AIDS in the Workplace: Fighting Fear with Facts and Policy.

ERIC Educational Resources Information Center

Lutgen, Lorraine

1987-01-01

The author provides background on Acquired Immune Deficiency Syndrome (AIDS) and reviews employers' responsibilities both to infected employees and all employees. She recommends that organizations develop a policy on the issue, including when AIDS testing will be used. AIDS training of all employees is discussed. (CH)

Acquired immune deficiency syndrome (AIDS) in Brazil. Necropsy findings.

PubMed

Michalany, J; Mattos, A L; Michalany, N S; Filie, A C; Montezzo, L C

1987-01-01

According to the 15 autopsies performed at the Department of Pathological Anatomy, Escola Paulista de Medicina, São Paulo, Brazil, it was confirmed that acquired immunodeficiency syndrome (AIDS) occurs preferably in young homosexual males, who die in a short period of time of the disease, which leads to a consumptive state verified by cachexia of the cadavers. The most affected organs of this series were the lungs and encephalum, exactly the ones responsible for the immediate cause of death. In this series of autopsies there were 9 types of microorganisms represented by virus, bacteria, fungi, protozoans and two types of tumors, Kaposi's sarcoma and lymphoma of the central nervous system. From the microorganisms, the most frequent was the Cytomegalovirus and, from the tumors, Kaposi's sarcoma. The various types of microorganisms were frequently associated, principally in the central nervous and digestive systems. There was also association of microorganisms with tumors. Besides the lesions produced by microorganisms there were other associated alterations as brown atrophy of neuronia, which was related to the infiltration of cerebral lymphoma, and the lymphocytic depletion of lymphoid organs due to immunological exhaustion. Cellular reaction to microorganisms was practically none, principally with Pneumocystis carinii and Cryptococcus neoformans, the first one behaving as an inert mould in the pulmonary alveoli and the second proliferating freely in tissues. In two cases there was no granulomatous reaction to Mycobacterium tuberculosis. The primary lymphoma of the central nervous system should be interpreted as a microglioma, i.e., a reticulosarcoma of this system according to Hortega's school.

Syndromes associated with nutritional deficiency and excess.

PubMed

Jen, Melinda; Yan, Albert C

2010-01-01

Normal functioning of the human body requires a balance between nutritional intake and metabolism, and imbalances manifest as nutritional deficiencies or excess. Nutritional deficiency states are associated with social factors (war, poverty, famine, and food fads), medical illnesses with malabsorption (such as Crohn disease, cystic fibrosis, and after bariatric surgery), psychiatric illnesses (eating disorders, autism, alcoholism), and medications. Nutritional excess states result from inadvertent or intentional excessive intake. Cutaneous manifestations of nutritional imbalance can herald other systemic manifestations. This contribution discusses nutritional deficiency and excess syndromes with cutaneous manifestations of particular interest to clinical dermatologists. Copyright © 2010. Published by Elsevier Inc.

AIDS: What Early Childhood Educators Need To Know.

ERIC Educational Resources Information Center

Spar, Ruth

Noting that Acquired Immune Deficiency Syndrome (AIDS) is expected to become the fifth leading cause of death for children ages 1 to 4, this paper provides relevant information on AIDS and the Human Immunodeficiency Virus (HIV) to help educators understand that they can work with children and adults who are HIV positive or who have AIDS. The…

Counseling Gay Men with AIDS: Human Dimensions.

ERIC Educational Resources Information Center

Barret, Robert L.

1989-01-01

Provides case material that demonstrates the emotional response of homosexual men to Acquired Immune Deficiency Syndrome (AIDS). Discusses denial, anger, rage, guilt, and shame experienced by these men with an emphasis on the human dimensions of AIDS. Concludes that most powerful contribution of counselors is their willingness to "be with" persons…

The Science of AIDS. Readings from Scientific American Magazine.

ERIC Educational Resources Information Center

Scientific American, Inc., New York, NY.

This collection of scientific articles on the subject of acquired immune deficiency syndrome (AIDS) covers many facets of the physical and social aspects of the disease. Technical articles deal with the molecular and cellular biology of AIDS and the Human Immunodeficiency Virus (HIV). The national and international epidemiology of AIDS and HIV are…

An Interview with AIDS Vaccine Researcher Chris Parks

ERIC Educational Resources Information Center

Sullivan, Megan

2010-01-01

The search for an AIDS (acquired immune deficiency syndrome) vaccine is truly a global effort, with university laboratories, biotech firms, pharmaceutical companies, nonprofit research organizations, hospitals, and clinics all working together to develop an effective vaccine as quickly as possible. The International AIDS Vaccine Initiative (IAVI)…

The Sobering Geography of AIDS.

ERIC Educational Resources Information Center

Palca, Joseph

1991-01-01

The rate at which the epidemic of acquired immune deficiency syndrome (AIDS) is spreading in North America, Asia, Latin America, and Africa is discussed. The number of people infected globally and in low-risk urban populations is presented. (KR)

Street Youth & AIDS.

ERIC Educational Resources Information Center

Radford, Joyce L.; And Others

Interviews were conducted with 712 Canadian street youth (ages 15-20 years) to assess their knowledge, attitudes, and behaviors with regard to Acquired Immune Deficiency Syndrome (AIDS) and other sexually transmitted diseases (STDs). Youth were interviewed in 10 cities across Canada on the basis of 5 street culture lifestyles: prostitution, drug…

Ethical Implications: Screening for and Treatment of AIDS.

ERIC Educational Resources Information Center

Chng, Chwee Lye; Roddy, William Meyer

1987-01-01

This article discusses the ethical implications of using tests intended only to protect the blood supply as diagnostic or prognostic tests for Acquired Immune Deficiency Syndrome (AIDS). The reliability of these tests and the confidentiality of their results are discussed, along with ethical issues of research regarding AIDS. (MT)

Teaching Undergraduates about AIDS: An Action-Oriented Approach.

ERIC Educational Resources Information Center

Christensen, Kimberly

1991-01-01

The creator of an undergraduate course on Acquired Immune Deficiency Syndrome (AIDS) argues that one must teach both risk reduction and awareness of the deeper political and social issues. Education should help students combat powerlessness by active involvement in AIDS efforts. The techniques include risk assessment, student journals, required…

An Approach to Coping with Anxiety about AIDS.

ERIC Educational Resources Information Center

Krieger, Irwin

1988-01-01

Describes a stepwise counseling approach for assisting persons with heightened anxiety about Acquired Immune Deficiency Syndrome (AIDS) and ways to handle fears about the sexual transmission of AIDS. Five steps discussed include getting accurate information, assessing fear prior to exposure, learning to protect oneself and others, gathering peer…

The Impact of AIDS on the Black Community.

ERIC Educational Resources Information Center

Hatchett, David

1990-01-01

More than 25 percent of those who have the Acquired Immune Deficiency Syndrome (AIDS) virus are African American, and, in large urban areas, the disease is a leading cause of death, especially among black women. AIDS education is vital to supplement health care efforts in the black community. (SLD)

Attitudes of Dental Hygiene Students toward Individuals with AIDS.

ERIC Educational Resources Information Center

Haring, Joen Iannucci; Lind, Laura J.

1992-01-01

At Ohio State University, 81 dental hygiene students' attitudes toward homosexual and heterosexual patients with acquired immune deficiency syndrome (AIDS) or leukemia were assessed using ratings of prejudice, social interaction, and interpersonal interaction. Negative bias toward individuals with AIDS and unwillingness to engage in everyday…

Classic Bartter syndrome complicated with profound growth hormone deficiency: a case report

PubMed Central

2013-01-01

Introduction Classic Bartter syndrome is a salt-wasting tubulopathy caused by mutations in the CLCNKB (chloride channel Kb) gene. Although growth hormone deficiency has been suggested as a cause for persistent growth failure in patients with classic Bartter syndrome, in our opinion the diagnoses of growth hormone deficiency has been unconvincing in some reports. Moreover, Gitelman syndrome seems to have been confused with Bartter syndrome in some cases in the literature. In the present work, we describe a new case with CLCNKB gene mutations and review the reported cases of classic Bartter syndrome associated with growth hormone deficiency. Case presentation Our patient was a Japanese boy diagnosed as having classic Bartter syndrome at eight months of age. The diagnosis of Bartter syndrome was confirmed by CLCNKB gene analysis, which revealed compound heterozygous mutations with deletion of exons 1 to 3 (derived from his mother) and ΔL130 (derived from his father). His medical therapy consisted of potassium (K), sodium chloride, spironolactone, and anti-inflammatory agents; this regime was started at eight months of age. Our patient was very short (131.1cm, -4.9 standard deviation) at 14.3 years and showed profoundly impaired growth hormone responses to pharmacological stimulants: 0.15μg/L to insulin-induced hypoglycemia and 0.39μg/L to arginine. His growth response to growth hormone therapy was excellent. Conclusions The present case strengthens the association between classic Bartter syndrome and growth hormone deficiency. We propose that growth hormone status should be considered while treating children with classic Bartter syndrome. PMID:24377430

Classic Bartter syndrome complicated with profound growth hormone deficiency: a case report.

PubMed

Adachi, Masanori; Tajima, Toshihiro; Muroya, Koji; Asakura, Yumi

2013-12-30

Classic Bartter syndrome is a salt-wasting tubulopathy caused by mutations in the CLCNKB (chloride channel Kb) gene. Although growth hormone deficiency has been suggested as a cause for persistent growth failure in patients with classic Bartter syndrome, in our opinion the diagnoses of growth hormone deficiency has been unconvincing in some reports. Moreover, Gitelman syndrome seems to have been confused with Bartter syndrome in some cases in the literature. In the present work, we describe a new case with CLCNKB gene mutations and review the reported cases of classic Bartter syndrome associated with growth hormone deficiency. Our patient was a Japanese boy diagnosed as having classic Bartter syndrome at eight months of age. The diagnosis of Bartter syndrome was confirmed by CLCNKB gene analysis, which revealed compound heterozygous mutations with deletion of exons 1 to 3 (derived from his mother) and ΔL130 (derived from his father). His medical therapy consisted of potassium (K), sodium chloride, spironolactone, and anti-inflammatory agents; this regime was started at eight months of age. Our patient was very short (131.1cm, -4.9 standard deviation) at 14.3 years and showed profoundly impaired growth hormone responses to pharmacological stimulants: 0.15μg/L to insulin-induced hypoglycemia and 0.39μg/L to arginine. His growth response to growth hormone therapy was excellent. The present case strengthens the association between classic Bartter syndrome and growth hormone deficiency. We propose that growth hormone status should be considered while treating children with classic Bartter syndrome.

Cytomegalovirus Retinitis and the Acquired Immune Deficiency Syndrome: Bench to Bedside: LXVII Edward Jackson Memorial Lecture

PubMed Central

Jabs, Douglas A.

2010-01-01

Purpose To update information on cytomegalovirus (CMV) retinitis in patients with the acquired immune deficiency syndrome (AIDS) and to integrate information on its pathogenesis and clinical outcomes. Design Literature review. Methods Selected articles from the medical literature, particularly large epidemiologic studies, including the Johns Hopkins Cytomegalovirus Retinitis Cohort Study, the Longitudinal Study of the Ocular Complications of AIDS, and the Cytomegalovirus Retinitis and Viral Resistance Study, were reviewed. Clinical information is discussed in light of knowledge on CMV, its pathogenesis, and its interactions with human immunodeficiency virus (HIV). Results Cytomegalovirus uses several mechanisms to evade the immune system and establish latent infection in immunologically normal hosts. With immune deficiency, such as late-stage AIDS, CMV reactivates, is disseminated to the eye, and establishes a productive infection, resulting in retinal necrosis. HIV and CMV potentiate each other: CMV accelerates HIV disease, and CMV retinitis is associated with increased mortality. Randomized clinical trials have demonstrated the efficacy of treatments for CMV retinitis. Systemically-administered treatment for CMV retinitis decreases AIDS mortality. Highly active antiretroviral therapy (HAART), effectively suppresses HIV replication, resulting in immune recovery, which, if sufficient, controls retinitis without anti-CMV therapy. Resistant CMV, detected in the blood, correlates with resistant virus in the eye and is associated with worse clinical outcomes, including mortality. Host factors, including host genetics and access to care, play a role in the development of CMV retinitis. Conclusions Clinical outcomes of CMV retinitis in patients with AIDS are dependent on characteristics of the virus and host and on HIV–CMV interactions. PMID:21168815

Public Health Nursing for People with AIDS.

ERIC Educational Resources Information Center

Dickinson, Dena; And Others

Individuals with Acquired Immune Deficiency Syndrome (AIDS) or AIDS-related conditions (ARC) need continual care and support, at a level which can severely tax the health resources of a community. Public health nursing should have a central role in the effective and efficient response to this devastating problem. Since the early stages of the AIDS…

Latinas and HIV/AIDS: Implications for the 90s.

ERIC Educational Resources Information Center

Maldonado, Miguelina

1991-01-01

Among Latinas, the number of cases of Acquired Immune Deficiency Syndrome (AIDS) is increasing relentlessly. From August 1989 to August 1990, there was a 53 percent increase nationally in cumulative AIDS cases among Latinas. In New York City, AIDS is the leading cause of death among Latinas aged 25-34. The conditions and circumstances that place…

Adolescents, AIDS and HIV: A Community-Wide Responsibility.

ERIC Educational Resources Information Center

Center for Population Options, Washington, DC.

This report explores policy initiatives, priorities, and plans of action recommended to policymakers with respect to a commitment to education for youth on prevention of Human Immunodeficiency Virus (HIV) infection and Acquired Immune Deficiency Syndrome (AIDS). Young people with AIDS/HIV infection, can be offered compassion, hope, and support.…

Psychological Distress amongst AIDS-Orphaned Children in Urban South Africa

ERIC Educational Resources Information Center

Cluver, Lucie; Gardner, Frances; Operario, Don

2007-01-01

Background: South Africa is predicted to have 2.3 million children orphaned by Acquired Immune Deficiency Syndrome (AIDS) by 2020 (Actuarial Society of South Africa, 2005). There is little knowledge about impacts of AIDS-related bereavement on children, to aid planning of services. This study aimed to investigate psychological consequences of AIDS…

Relationship Between Vitamin D Deficiency and Markers of Metabolic Syndrome Among Overweight and Obese Adults.

PubMed

Kaseb, Fatemeh; Haghighyfard, Kimia; Salami, Maryam-Sadat; Ghadiri-Anari, Akram

2017-06-01

In recent years, metabolic syndrome, obesity, diabetes and cardiovascular disease has had a tremendous elevation growth. Many studies have demonstrated negative correlation between vitamin D deficiency and indexes of metabolic syndrome in obese patients. This study was designed to find the relation between vitamin D deficiency and markers of metabolic syndrome among overweight and obese adults referred to obesity center of Shahid Sadoughi hospital in 2014. Eighty-nine overweight and obese adults (79 women and 10 men), who 13 subjects were overweight and 76 subjects were obese were recruited in this cross-sectional study. Total cholesterol, high-density lipoprotein cholesterol, triglyceride, plasma glucose and vitamin D were measured. IDF criteria were used for identifying subjects with metabolic syndrome. Demographic questionnaire was completed. Statistical analysis was performed using SPSS version 16.0. Fisher exact test, logistic regression, and Spearman correlation coefficient were used. The frequency of vitamin D deficiency was 93.2%. According to IDF criteria, the frequency of metabolic syndrome was 36%. There was no significant relationship between vitamin D deficiency and metabolic syndrome. Among metabolic syndrome indicators, there was a significant direct relationship between vitamin D level with FBS (P=0.013) and SBP (P=0.023). There was no significant relationship between vitamin D deficiency and metabolic syndrome. Due to the lack of relationship between vitamin D deficiency and metabolic syndrome, small number of participants in this study and very low case of normal vitamin D level, further studies are needed.

Effectiveness and safety of traditional Chinese medicine in treating acquired immune deficiency syndrome: 2004-2014.

PubMed

Liu, Zhi-Bin; Yang, Ji-Ping; Xu, Li-Ran

2015-12-23

Substantial progress has been made in China in using traditional Chinese medicine (TCM) to treat acquired immune deficiency syndrome (AIDS). Our objective was to review the latest developments in TCM treatment of AIDS in China between 2004 and 2014. We reviewed the content of original articles investigating the efficacy and safety of TCM for treating AIDS published in Chinese and English language journals. Relevant references from 2004 to 2014 were found using PubMed and the China National Knowledge Infrastructure Database. We found that TCM has been widely used for treating AIDS and its complications in China. The number of TCM studies has increased, which indicates efficacy and safety. Measures of efficacy in the reviewed articles included the alleviation of human immunodeficiency virus (HIV)-related signs and symptoms, improvements in quality of life, improvements in long-term survival, counteraction of the adverse side effects of antiviral drugs, promotion of immune reconstitution, and improvement of laboratory results. In sum, the literature indicates that TCM is safe. TCM plays an important role in the treatment of AIDS. Some studies have attempted to measure the efficacy and safety of TCM for treating AIDS, but more evidence is needed. Therefore, more research on this topic is required in the future.

Controversies in Poland Syndrome: Alternative Diagnoses in Patients With Congenital Pectoral Muscle Deficiency.

PubMed

Baas, Martijn; Burger, Elise B; Sneiders, Dimitri; Galjaard, Robert-Jan H; Hovius, Steven E R; van Nieuwenhoven, Christianne A

2018-02-01

Poland syndrome was first described as a deficiency of the pectoral muscle with ipsilateral symbrachydactyly. Currently, numerous case reports describe variations of Poland syndrome in which pectoral muscle deficiency is often used as the only defining criterion. However, more syndromes can present with pectoral muscle deficiency. The aim of this review is to illustrate the diversity of the phenotypic spectrum of Poland syndrome and to create more awareness for alternative diagnoses in pectoral muscle deficiency. A systematic literature search was performed. Articles containing phenotypical descriptions of Poland syndrome were included. Data extraction included number of patients, sex, familial occurrence, and the definition of Poland syndrome used. In addition, hand deformities, thoracic deformities, and other deformities in each patient were recorded. Alternative syndrome diagnoses were identified in patients with a combination of hand, thorax, and other deformities. One hundred-and-thirty-six articles were included, describing 627 patients. Ten different definitions of Poland syndrome were utilized. In 58% of the cases, an upper extremity deformity was found and 43% of the cases had an associated deformity. Classic Poland syndrome was seen in 29%. Fifty-seven percent of the patients with a pectoral malformation, a hand malformation, and another deformity had at least 1feature that matched an alternative syndrome. Pectoral muscle hypoplasia is not distinctive for Poland syndrome alone but is also present in syndromes with other associated anomalies with a recognized genetic cause. Therefore, in patients with an atypical phenotype, we recommend considering other diagnoses and/or syndromes before diagnosing a patient with Poland syndrome. This can prevent diagnostic and prognostic errors. Differentiating Poland syndrome from the alternative diagnoses has serious consequences for the patient and their family in terms of inheritance and possible related anomalies

AIDS: What Young Adults Should Know. Student Guide. Second Edition.

ERIC Educational Resources Information Center

Yarber, William L.

This guide provides information on what Acquired Immune Deficiency Syndrome (AIDS) is, how it is transmitted, and how it can be prevented. The introductory material contains two self-tests on AIDS and HIV infection. The main part of the guide has five sections: (1) AIDS: What It Is; (2) HIV/AIDS: The Size of the Problem; (3) HIV: How It Is…

Adolescents, AIDS and HIV. Resources.

ERIC Educational Resources Information Center

Resources for Educators, 1990

1990-01-01

This compilation of educational resources is designed for communities which have been either overlooked in Acquired Immune Deficiency Syndrome (AIDS) education efforts or disproportionately affected by Human Immunodeficiency Virus (HIV) infection. The materials listed target Blacks, Latinos, Asians and Pacific Islanders, Native Americans, young…

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

PubMed Central

Torres, Rosa J; Puig, Juan G

2007-01-01

Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity is an inborn error of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzymatic deficiency. The prevalence is estimated at 1/380,000 live births in Canada, and 1/235,000 live births in Spain. Uric acid overproduction is present inall HPRT-deficient patients and is associated with lithiasis and gout. Neurological manifestations include severe action dystonia, choreoathetosis, ballismus, cognitive and attention deficit, and self-injurious behaviour. The most severe forms are known as Lesch-Nyhan syndrome (patients are normal at birth and diagnosis can be accomplished when psychomotor delay becomes apparent). Partial HPRT-deficient patients present these symptoms with a different intensity, and in the least severe forms symptoms may be unapparent. Megaloblastic anaemia is also associated with the disease. Inheritance of HPRT deficiency is X-linked recessive, thus males are generally affected and heterozygous female are carriers (usually asymptomatic). Human HPRT is encoded by a single structural gene on the long arm of the X chromosome at Xq26. To date, more than 300 disease-associated mutations in the HPRT1 gene have been identified. The diagnosis is based on clinical and biochemical findings (hyperuricemia and hyperuricosuria associated with psychomotor delay), and enzymatic (HPRT activity determination in haemolysate, intact erythrocytes or fibroblasts) and molecular tests. Molecular diagnosis allows faster and more accurate carrier and prenatal diagnosis. Prenatal diagnosis can be performed with amniotic cells obtained by amniocentesis at about 15–18 weeks' gestation, or chorionic villus cells obtained at about 10–12 weeks' gestation. Uric acid overproduction can be managed by allopurinol treatment. Doses must be carefully adjusted to avoid xanthine lithiasis. The lack of precise

AIDS: Are Children at Risk? ERIC Digest 16.

ERIC Educational Resources Information Center

ERIC Clearinghouse on Teacher Education, Washington, DC.

Lack of knowledge and misinformation about Acquired Immune Deficiency Syndrome (AIDS), a fatal disease with no cure or vaccine, has caused widespread public concern. Education is an effective way to reduce fears and prevent the spread of the disease. Public school personnel must have accurate information about AIDS in order to make suitable…

Is AIDS a Biasing Factor in Teacher Judgment?

ERIC Educational Resources Information Center

Walker, David W.; Hulecki, Mary B.

1989-01-01

Regular-education, third-grade teachers (n=91) in Indiana reviewed one of two psychological reports, identical except that one reported a diagnosis of Acquired Immune Deficiency Syndrome (AIDS) and one reported a diagnosis of rheumatic fever. AIDS was not found to be a biasing factor in teachers' judgments regarding special education placement.…

Reduced bone density in androgen-deficient women with acquired immune deficiency syndrome wasting.

PubMed

Huang, J S; Wilkie, S J; Sullivan, M P; Grinspoon, S

2001-08-01

Women with acquired immune deficiency syndrome wasting are at an increased risk of osteopenia because of low weight, changes in body composition, and hormonal alterations. Although women comprise an increasing proportion of human immunodeficiency virus-infected patients, prior studies have not investigated bone loss in this expanding population of patients. In this study we investigated bone density, bone turnover, and hormonal parameters in 28 women with acquired immune deficiency syndrome wasting and relative androgen deficiency (defined as free testosterone < or =3.0 pg/ml, weight < or =90% ideal body weight, weight loss > or =10% from preillness maximum weight, or weight <100% ideal body weight with weight loss > or =5% from preillness maximum weight). Total body (1.04 +/- 0.08 vs. 1.10 +/- 0.07 g/cm2, human immunodeficiency virus-infected vs. control respectively; P < 0.01), anteroposterior lumbar spine (0.94 +/- 0.12 vs. 1.03 +/- 0.09 g/cm2; P = 0.005), lateral lumbar spine (0.71 +/- 0.14 vs. 0.79 +/- 0.09 g/cm2; P = 0.02), and hip (Ward's triangle; 0.68 +/- 0.14 vs. 0.76 +/- 0.12 g/cm2; P = 0.05) bone density were reduced in the human immunodeficiency virus-infected compared with control subjects. Serum N-telopeptide, a measure of bone resorption, was increased in human immunodeficiency virus-infected patients, compared with control subjects (14.6 +/- 5.8 vs. 11.3 +/- 3.8 nmol/liter bone collagen equivalents, human immunodeficiency virus-infected vs. control respectively; P = 0.03). Although body mass index was similar between the groups, muscle mass was significantly reduced in the human immunodeficiency virus-infected vs. control subjects (16 +/- 4 vs. 21 +/- 4 kg, human immunodeficiency virus-infected vs. control, respectively; P < 0.0001). In univariate regression analysis, muscle mass (r = 0.53; P = 0.004) and estrogen (r = 0.51; P = 0.008), but not free testosterone (r = -0.05, P = 0.81), were strongly associated with lumbar spine bone density in the

AIDS Prevention. Guidelines for Schools.

ERIC Educational Resources Information Center

Maryland State Dept. of Health and Mental Hygiene, Baltimore.

These instructional guidelines contain information for school systems and teachers in Maryland to assist them in preparing to deliver instruction on Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome (HIV/AIDS) prevention to students. The instruction is appropriate to the age, intellectual development, maturity, and curiosity of the…

AIDS in Canada: Knowledge, Behaviour, and Attitudes of Adults.

ERIC Educational Resources Information Center

Ornstein, Michael D.

A questionnaire dealing with knowledge about Acquired Immune Deficiency Syndrome (AIDS) and how it is communicated, with behavior involving risk of human immunodeficiency virus (HIV) infection, and with public policy for dealing with AIDS was completed by 1,259 Canadian adults. Canadians had a generally high level of knowledge about the…

Burnout in Hospital Social Workers Who Work with AIDS Patients.

ERIC Educational Resources Information Center

Oktay, Julianne S.

1992-01-01

Surveyed 128 hospital social workers who worked with Acquired Immune Deficiency Syndrome (AIDS) patients. Found that hospital AIDS social workers had slightly higher rates of emotional exhaustion and depersonalization on Maslach Burnout Inventory but also felt substantially higher level of personal accomplishment. Age, autonomy, and belonging to…

AIDS Elementary/Intermediate Curriculum.

ERIC Educational Resources Information Center

Kellogg, Nancy Rader

This Acquired Immune Deficiency Syndrome (AIDS) Curriculum was developed for intermediate elementary (5th, 6th, and 7th grade) students. It is an integrated unit that encompasses health, science, social studies, math, and language arts. The curriculum is comprised of nine class activities designed to meet the following objectives: (1) to determine…

Fire-Heat and Qi Deficiency Syndromes as Predictors of Short-term Prognosis of Acute Ischemic Stroke

PubMed Central

Cheng, Shu-Chen; Lin, Chien-Hsiung; Chang, Yeu-Jhy; Lee, Tsong-Hai; Ryu, Shan-Jin; Chen, Chun-Hsien; Chang, Her-Kun; Chang, Chee-Jen

2013-01-01

Abstract Objectives To explore the relationships between traditional Chinese medicine (TCM) syndromes and disease severity and prognoses after ischemic stroke, such as neurologic deficits and decline in activities of daily living (ADLs). Methods The study included 211 patients who met the inclusion criteria of acute ischemic stroke based on clinical manifestations, computed tomography or magnetic resonance imaging findings, and onset of ischemic stroke within 72 hours with clear consciousness. To assess neurologic function and ADLs in patients with different TCM syndromes, the TCM Syndrome Differentiation Diagnostic Criteria for Apoplexy scale (containing assessments of wind, phlegm, blood stasis, fire-heat, qi deficiency, and yin deficiency with yang hyperactivity syndromes) was used within 72 hours of stroke onset, and Western medicine–based National Institutes of Health Stroke Scale (NIHSS) and Barthel Index (BI) assessments were performed at both admission and discharge. Results The most frequent TCM syndromes associated with acute ischemic stroke were wind syndrome, phlegm syndrome, and blood stasis syndrome. Improvement according to the BI at discharge and days of admission were significantly different between patients with and those without fire-heat syndrome. Patients with qi deficiency syndrome had longer hospital stays and worse NIHSS and BI assessments at discharge than patients without qi deficiency syndrome. All the reported differences reached statistical significance. Conclusions These results provide evidence that fire-heat syndrome and qi deficiency syndrome are essential elements that can predict short-term prognosis of acute ischemic stroke. PMID:23600945

The Correlation between Homosexuality and an AIDS Diagnosis: Is It Perceived or Real?

ERIC Educational Resources Information Center

Triplet, Rodney G.; And Others

Prior research on observer perceptions of Acquired Immune Deficiency Syndrome (AIDS) patients has concluded that there is a strong tendency to assume that homosexuals are patients of AIDS while heterosexuals are patients of anything but AIDS. This study sought to determine if there was a greater tendency to diagnose AIDS among female homosexuals…

Epidemiology of Acquired Immune Deficiency Syndrome and Cerebrovascular Disease in a Post Antiretroviral Era.

PubMed

Kucab, Phillip; Bhattacharya, Pratik

2017-06-01

People with acquired immune deficiency syndrome (AIDS) develop ischemic stroke through distinct mechanisms. These include infections such as syphilis, tuberculosis, varicella, and other conditions such as cocaine abuse, endocarditis, and hypercoagulability. The effect of improved awareness, detection, and treatment with highly active antiretroviral therapy (HAART) on the incidence and outcome of AIDS patients with stroke is unknown. Data from the Nationwide Inpatient Sample from 1995 to 2010 were analyzed. Patients with ischemic stroke and AIDS were identified using ICD-9 (International Classification of Diseases) codes. Time trends for demographics, survival, and frequency of AIDS-associated conditions were analyzed. Proportion of AIDS among stroke patients increased significantly during the study. Median age of all strokes decreased from 75 years in 1995 to 72 years in 2010. Conversely, median age for men with stroke and AIDS increased from 43 years to 53 years; and for women with stroke and AIDS, from 41 years to 51 years. Death rates from stroke in the AIDS patients declined. In recent years, the death rates from stroke are similar to patients without HIV/AIDS. Stroke patients with AIDS had increased odds of syphilis (odds ratio [OR]: 33.50), varicella (OR: 48.34), tuberculosis (OR: 137.48), endocarditis (OR: 5.19), cocaine abuse (OR: 26.05), and hypercoagulability (OR: 4.82). In the HAART era, the median age of incident stroke in AIDS has increased and the mortality from stroke has improved. Research should focus on optimal management of dyslipidemia while on HAART. Whether HAART can reduce the incidence and improve survival of stroke needs to be explored. Copyright © 2017 National Stroke Association. Published by Elsevier Inc. All rights reserved.

School Health Education To Prevent AIDS and Sexually Transmitted Diseases. WHO AIDS Series 10.

ERIC Educational Resources Information Center

World Health Organization, Geneva (Switzerland).

This guide provides a framework within which education authorities can work with teachers, parents, and community leaders to help young people learn the facts about Acquired Immune Deficiency Syndrome (AIDS) and Sexually Transmitted Diseases (STDs). It emphasizes the importance of education about human behavior and sexuality that is appropriate to…

AIDS Awareness of High School Students: An Exploratory Study.

ERIC Educational Resources Information Center

McCoy, Leah P.; Calvin, Richmond E.

The Surgeon General's information material on the Acquired Immune Deficiency Syndrome (AIDS), which was mailed to every household in the United States, was used to develop an AIDS Awareness Inventory. The inventory was designed for administration to 182 high school students enrolled in schools in three districts, which have adopted an AIDS…

An Unforgiving Enemy: AIDS. Student Reader and Teacher's Guide.

ERIC Educational Resources Information Center

Adult Education Services, Johnstown, PA.

These adult basic education instructional materials on the prevention of Acquired Immune Deficiency Syndrome (AIDS) include a student reader and a teacher's guide. The student reader contains six chapters. Chapter 1 introduces two characters--Ricco and Francis--and focuses on the definition of AIDS, the three stages of the disease, the cause, and…

D.C. Teenagers and AIDS: Knowledge, Attitudes, and Behaviors.

ERIC Educational Resources Information Center

Center for Population Options, Washington, DC.

Adolescents currently account for less than 1 percent of reported AIDS cases. Yet, because of their experimentation with both sex and drugs, teens face an increasingly high risk of contracting and transmitting the virus that causes AIDS (Acquired Immune Deficiency Syndrome). A total of 35 innercity black adolescents, ages 14 through 17, were…

AIDS and Adolescents: The Relation of Parent and Partner Communication to Adolescent Condom Use.

ERIC Educational Resources Information Center

Shoop, Dawn M.; Davidson, Philip M.

1994-01-01

Eighty male and female heterosexual adolescents completed questionnaires concerning sexual behavior and condom use, Acquired Immune Deficiency Syndrome (AIDS) knowledge, ability to communicate with sexual partners about AIDS-related issues, and communication with parents about sex and AIDS. Adolescents' perceived ability to communicate with…

AIDS: Workplace Issues. INFO-LINE. Practical Guidelines for Training and Development Professionals. Issue 9208.

ERIC Educational Resources Information Center

American Society for Training and Development, Alexandria, VA.

Practical guidelines are presented for training and development professionals dealing with acquired immune deficiency syndrome (AIDS) in the workplace. The following topics are covered: AIDS in the workplace; AIDS basics, including information on the required corporate commitment and transmission of human immunodeficiency virus (HIV); employment…

AIDS: A Selective Bibliography.

ERIC Educational Resources Information Center

Candaras, Barbara J.

Intended for use primarily by the general adult public, this pathfinder lists selected information sources on the Acquired Immune Deficiency Syndrome (AIDS) that are in the collections of the State University of New York (SUNY) at Buffalo Health Sciences Library, the Central Library-Buffalo, and the Erie County Public Library. A broad range of…

Growth hormone deficiency: an unusual presentation of floating harbor syndrome.

PubMed

Galli-Tsinopoulou, Assimina; Kyrgios, Ioannis; Emmanouilidou, Eleftheria; Maggana, Ioanna; Kotanidou, Eleni; Kokka, Paraskevi; Stylianou, Charilaos

2011-01-01

Floating-Harbor Syndrome (FHS) is a very rare condition of unknown etiology characterized by short stature, delayed bone age, characteristic facial features, delayed language skills and usually normal motor development. This syndrome has only once been associated with growth hormone deficiency and precocious puberty in the same patient. We describe a 5 4/12 year-old girl with the typical features of FHS in whom growth hormone deficiency was diagnosed and two years later central precocious puberty was noted. The patient showed a good response to human recombinant growth hormone as well as gonadotropin releasing hormone analogue treatment.

Human immunodeficiency virus (HIV) is highly associated with giant idiopathic esophageal ulcers in acquired immunodeficiency syndrome (AIDS) patients.

PubMed

Lv, Bei; Cheng, Xin; Gao, Jackson; Zhao, Hong; Chen, Liping; Wang, Liwei; Huang, Shaoping; Fan, Zhenyu; Zhang, Renfang; Shen, Yinzhong; Li, Lei; Liu, Baochi; Qi, Tangkai; Wang, Jing; Cheng, Jilin

2016-01-01

This study aimed to determine whether the human immunodeficiency virus (HIV) exists in giant idiopathic esophageal ulcers in the patients with acquired immune deficiency syndrome (AIDS). 16 AIDS patients with a primary complaint of epigastric discomfort were examined by gastroscopy. Multiple and giant esophageal ulcers were biopsied and analyzed with pathology staining and reverse transcription-polymerase chain reaction (RT-PCR) to determine the potential pathogenic microorganisms, including HIV, cytomegalovirus (CMV) and herpes simplex viruses (HSV). HIV was detected in ulcer samples from 12 out of these 16 patients. Ulcers in 2 patients were infected with CMV and ulcers in another 2 patients were found HSV positive. No obvious cancerous pathological changes were found in these multiple giant esophageal ulcer specimens. HIV may be one of the major causative agents of multiple benign giant esophageal ulcers in AIDS patients.

The Facts about AIDS. A Special NEA "Higher Education Advocate" Report.

ERIC Educational Resources Information Center

Wechsler, Harold, Ed.

1987-01-01

Information about Acquired Immune Deficiency Syndrome (AIDS) is presented to alert National Education Association educators to behaviors that place people at risk for AIDS. The material was prepared by the Public Health Service. Topics include: sexual transmission, transmission from injected blood, transmission during pregnancy, groups at greatest…

Getting the Word Out: A Practical Guide to AIDS Materials Development.

ERIC Educational Resources Information Center

Matiella, Ana Consuelo, Ed.

This book provides health professionals with a "how to" approach to developing culturally sensitive and effective Acquired Immune Deficiency Syndrome (AIDS) education materials. It is a collection of chapters written by community AIDS educators who have specialized knowledge and skill in developing educational materials in multi-ethnic…

Nurses' Attitudes toward Gay and Hemophiliac Patients with AIDS.

ERIC Educational Resources Information Center

Strasser, Judith A.; Damrosch, Shirley

A sample of nurses (N=183) enrolled in a School of Nursing's master degree program was randomly assigned to read one of six vignettes about a patient who differed only in terms of diagnosis and lifestyle. Possible diagnoses were Acquired Immune Deficiency Syndrome (AIDS), AIDS acquired by a hemophiliac through blood therapy, and leukemia; possible…

AIDS: It's Not What You Know, It's What You Do.

ERIC Educational Resources Information Center

Hochhauser, Mark

This document reviews five psychological domains of prevention of the behavioral disease of Acquired Immune Deficiency Syndrome (AIDS). First the limits of AIDS education are discussed, noting that increasing amounts of education will not necessarily reduce the spread of the virus, since information and education do not control behavior. Research…

HIV and Mental Health Institutions. AIDS Technical Report, No. 4.

ERIC Educational Resources Information Center

Harvey, David C.

This technical report is part of a series on AIDS/HIV (Acquired Immune Deficiency Syndrome/Human Immunodeficiency Virus) and is intended to help link various legal advocacy organizations providing services to persons with mental illness or developmental disabilities. This paper examines AIDS policy issues in mental health institutions. The paper…

Incorporating AIDS Education in Prison Adult Education Programs in Nigeria.

ERIC Educational Resources Information Center

Enuku, Usiwoma Evawoma; Enuku, Christie Akpoigho

1999-01-01

Indicates that there are no acquired immune deficiency syndrome (AIDS) education programs in Nigerian prisons and that because of total confinement and the absence of conjugal visits, homosexuality may be common. Outlines the objectives of AIDS education in prisons and the benefits as the inmates return to their communities. (JOW)

AIDS: What Young Adults Should Know. Instructor's Guide. Student Guide. Second Edition.

ERIC Educational Resources Information Center

American Alliance for Health, Physical Education, Recreation and Dance, Reston, VA.

The student guide on the problem of Acquired Immune Deficiency Syndrome (AIDS) contains specific information on what AIDS is, the size of the problem, how it is transmitted, and how it can be prevented. The accompanying instructor's guide presents the goals of AIDS education and a five-session lesson plan. Learning opportunities are offered to…

Coping with AIDS: Psychological and Social Considerations in Helping People with HTLV-III Infection.

ERIC Educational Resources Information Center

Runck, Bette

This booklet was written to familiarize health and mental health professionals and paraprofessionals with the psychological and social problems associated with acquired immune deficiency syndrome (AIDS). It briefly reviews the realities of AIDS and describes the challenge that AIDS poses for health care professionals. A section on neuropsychiatric…

AIDS: Is Any Risk Too Great? The 1987 Perspective.

ERIC Educational Resources Information Center

Hartog-Rapp, Fay

This report discusses public school legal liability in the Acquired Immune Deficiency Syndrome (AIDS) controversy with regard to the right of privacy of AIDS victims who are students and employees and the concern of risk of contagion to other students and employees and the public's right to know what is going on in their schools. Several steps…

Older Americans and AIDS: Transmission Risks and Primary Prevention Research Needs.

ERIC Educational Resources Information Center

Catania, Joseph A.; And Others

1989-01-01

Growing number of Acquired Immune Deficiency Syndrome (AIDS) cases among older Americans is of increasing concern. In context of primary prevention, reviews findings that bear on modes of human immunodeficiency virus (HIV) transmission (blood transfusions, sexual) among older individuals and knowledge of magnitude of the AIDS problem represented…

Family Structure and Functions Identified by Persons Living with HIV/AIDS.

ERIC Educational Resources Information Center

Wong-Wylie, Gina; Doherty-Poirier, Maryanne; Kieren, Dianne

1999-01-01

A study looked at the structural and functional aspects of family from the perspective of six people living with acquired immune deficiency syndrome (AIDS) or human immunodeficiency virus (HIV). Results showing how HIV/AIDS affects all members of the sufferer's family have implications for family practitioners. (Author/JOW)

Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report.

PubMed

Jedraszak, Guillaume; Braun, Karine; Receveur, Aline; Decamp, Matthieu; Andrieux, Joris; Rabbind Singh, Amrathlal; Copin, Henri; Bremond-Gignac, Dominique; Mathieu, Michèle; Rochette, Jacques; Morin, Gilles

2015-10-01

Growth hormone deficiency affects roughly between one in 3000 and one in 4000 children with most instances of growth hormone deficiency being idiopathic. Growth hormone deficiency can also be associated with genetic diseases or chromosome abnormalities. Association of growth hormone deficiency together with hypothalamic-pituitary axis malformation and Cat-Eye syndrome is a very rare condition. We report a family with two brothers presenting with growth delay due to a growth hormone deficiency associated with a polymalformation syndrome. They both displayed pre-auricular pits and tags, imperforate anus and Duane retraction syndrome. Both parents and a third unaffected son displayed normal growth pattern. Cerebral MRI showed a hypothalamic-pituitary axis malformation in the two affected brothers. Cytogenetic studies revealed a type I small supernumerary marker chromosome derived from chromosome 22 resulting in a tetrasomy 22pter-22q11.21 characteristic of the Cat-Eye syndrome. The small supernumerary marker chromosome was present in the two affected sons and the mother in a mosaic state. Patients with short stature due to growth hormone deficiency should be evaluated for chromosomal abnormality. Family study should not be underestimated. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Hearing rehabilitation in Treacher Collins Syndrome with bone anchored hearing aid

PubMed Central

Polanski, José Fernando; Plawiak, Anna Clara; Ribas, Angela

2015-01-01

Objective: To describe a case of hearing rehabilitation with bone anchored hearing aid in a patient with Treacher Collins syndrome. Case description: 3 years old patient, male, with Treacher Collins syndrome and severe complications due to the syndrome, mostly related to the upper airway and hearing. He had bilateral atresia of external auditory canals, and malformation of the pinna. The initial hearing rehabilitation was with bone vibration arch, but there was poor acceptance due the discomfort caused by skull compression. It was prescribed a model of bone-anchored hearing aid, in soft band format. The results were evaluated through behavioral hearing tests and questionnaires Meaningful Use of Speech Scale (MUSS) and Infant-Toddler Meaningful Auditory Integration Scale (IT-MAIS). Comments: The patient had a higher acceptance of the bone-anchored hearing aid compared to the traditional bone vibration arch. Audiological tests and the speech and auditory skills assessments also showed better communication and hearing outcomes. The bone-anchored hearing aid is a good option in hearing rehabilitation in this syndrome. PMID:26298651

Sexually Transmitted Infections Among Hospitalized Patients With Human Immunodeficiency Virus Infection and Acquired Immune Deficiency Syndrome (HIV/AIDS) in Zahedan, Southeastern Iran.

PubMed

Hashemi-Shahri, Seyed Mohammad; Sharifi-Mood, Batool; Kouhpayeh, Hamid-Reza; Moazen, Javad; Farrokhian, Mohsen; Salehi, Masoud

2016-09-01

Studies show that nearly 40 million people are living with human immunodeficiency virus infection and acquired immune deficiency syndrome (HIV/AIDS) around the world and since the beginning of the epidemic, about 35 million have died from AIDS. Heterosexual intercourse is the most common route for transmission of HIV infection (85%). People with a sexually transmitted infection (STI), such as syphilis, genital herpes, chancroid, or bacterial vaginosis, are more likely to obtain HIV infection during sex. On the other hand, a patient with HIV can acquire other infections such as hepatitis C virus (HCV) and hepatitis B virus (HBV) and also STIs. Co-infections and co-morbidities can affect the treatment route of patients with HIV/AIDs. Sometimes, physicians should treat these infections before treating the HIV infection. Therefore, it is important to identify co-infection or comorbidity in patients with HIV/AIDS. This study was conducted in order to understand the prevalence of HIV/AIDS/STI co-infection. In this cross-sectional study, we evaluated all HIV/AIDS patients who were admitted to the infectious wards of Boo-Ali hospital (Southeastern Iran) between March 2000 and January 2015. All HIV/AIDS patients were studied for sexually transmitted infections (STI) such as syphilis, gonorrhea, hepatitis B virus (HBV) and genital herpes. A questionnaire including data on age, sex, job, history of vaccination against HBV, hepatitis B surface antigen (HBsAg), hepatitis B core antibody (anti-HBc), hepatitis B surface antigen (anti-HBs), HCV-Ab, venereal disease research laboratory (VDRL) test, fluorescent treponemal antibody absorption (FTA-Abs) test, and urine culture was designed. Data was analyzed by the Chi square test and P values of < 0.05 were considered significant. Among the 41 patients with HIV/AIDS (11 females and 30 males; with age range of 18 to 69 years) five cases (12.1%) had a positive test (1:8 or more) for VDRL. The FTA-Abs was positive for all patients who

Pathophysiology of B-cell intrinsic immunoglobulin class switch recombination deficiencies.

PubMed

Durandy, Anne; Taubenheim, Nadine; Peron, Sophie; Fischer, Alain

2007-01-01

B-cell intrinsic immunoglobulin class switch recombination (Ig-CSR) deficiencies, previously termed hyper-IgM syndromes, are genetically determined conditions characterized by normal or elevated serum IgM levels and an absence or very low levels of IgG, IgA, and IgE. As a function of the molecular mechanism, the defective CSR is variably associated to a defect in the generation of somatic hypermutations (SHMs) in the Ig variable region. The study of Ig-CSR deficiencies contributed to a better delineation of the mechanisms underlying CSR and SHM, the major events of antigen-triggered antibody maturation. Four Ig-CSR deficiency phenotypes have been so far reported: the description of the activation-induced cytidine deaminase (AID) deficiency (Ig-CSR deficiency 1), caused by recessive mutations of AICDA gene, characterized by a defect in CSR and SHM, clearly established the role of AID in the induction of the Ig gene rearrangements underlying CSR and SHM. A CSR-specific function of AID has, however, been detected by the observation of a selective CSR defect caused by mutations affecting the C-terminus of AID. Ig-CSR deficiency 2 is the consequence of uracil-N-glycosylase (UNG) deficiency. Because UNG, a molecule of the base excision repair machinery, removes uracils from DNA and AID deaminates cytosines into uracils, that observation indicates that the AID-UNG pathway directly targets DNA of switch regions from the Ig heavy-chain locus to induce the CSR process. Ig-CSR deficiencies 3 and 4 are characterized by a selective CSR defect resulting from blocks at distinct steps of CSR. A further understanding of the CSR machinery is expected from their molecular definition.

SAFE: Stopping AIDS through Functional Education.

ERIC Educational Resources Information Center

Hylton, Judith

This functional curriculum is intended to teach people with developmental disabilities or other learning problems how to prevent infection with HIV/AIDS (Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome). The entire curriculum includes six video segments, four illustrated brochures, 28 slides and illustrations, as well as a guide…

Psychosocial Factors and AIDS-Related Behavior of Homosexual Men: Measurement and Associations.

ERIC Educational Resources Information Center

Zapka, Jane G.; And Others

1990-01-01

Measurement and data-reduction procedures were conducted for psychosocial scales used in behavioral research on the acquired immune deficiency syndrome (AIDS). Associations of the scales for other personal and health services/information factors with one selected AIDS protective behavior among 281 asymptomatic homosexual/bisexual men were…

[Cytochrome c oxydase-deficient Leigh syndrome with homozygous mutation in SURF1 gene].

PubMed

Monnot, S; Chabrol, B; Cano, A; Pellissier, J F; Collignon, P; Montfort, M F; Paquis-Flucklinger, V

2005-05-01

Leigh syndrome is a heterogeneous disorder, usually due to a defect in oxidative metabolism. Mutations in SURF1 gene have been identified in patients with cytochrome c oxidase deficiency. We report a homozygous splice site deletion [516-2_516-1delAG] in a young girl presenting with cytochrome c oxidase-deficient Leigh syndrome. Identification of molecular defect is indispensable for genetic counselling and prenatal diagnosis.

Human immunodeficiency virus (HIV) is highly associated with giant idiopathic esophageal ulcers in acquired immunodeficiency syndrome (AIDS) patients

PubMed Central

Lv, Bei; Cheng, Xin; Gao, Jackson; Zhao, Hong; Chen, Liping; Wang, Liwei; Huang, Shaoping; Fan, Zhenyu; Zhang, Renfang; Shen, Yinzhong; Li, Lei; Liu, Baochi; Qi, Tangkai; Wang, Jing; Cheng, Jilin

2016-01-01

Objective: This study aimed to determine whether the human immunodeficiency virus (HIV) exists in giant idiopathic esophageal ulcers in the patients with acquired immune deficiency syndrome (AIDS). Methods: 16 AIDS patients with a primary complaint of epigastric discomfort were examined by gastroscopy. Multiple and giant esophageal ulcers were biopsied and analyzed with pathology staining and reverse transcription-polymerase chain reaction (RT-PCR) to determine the potential pathogenic microorganisms, including HIV, cytomegalovirus (CMV) and herpes simplex viruses (HSV). Results: HIV was detected in ulcer samples from 12 out of these 16 patients. Ulcers in 2 patients were infected with CMV and ulcers in another 2 patients were found HSV positive. No obvious cancerous pathological changes were found in these multiple giant esophageal ulcer specimens. Conclusion: HIV may be one of the major causative agents of multiple benign giant esophageal ulcers in AIDS patients. PMID:27830031

AIDS and Herpes Carry Weighty Policy Implications for Your Board.

ERIC Educational Resources Information Center

McCormick, Kathleen

1985-01-01

Few schools have policies to deal specifically with herpes and Acquired Immune Deficiency Syndrome (AIDS). Discusses some schools and states that have developed such policies and includes a source list for more information. (MD)

Psychotherapy with AIDS Patients: Countertransference Issues.

ERIC Educational Resources Information Center

Wilk, Carole A.

This paper provides a personal account of the process of psychotherapy for Acquired Immune Deficiency Syndrome (AIDS) patients, as seen from both the client's and the psychotherapist's perspective, with a focus on countertransference issues found in the early phases of treatment. Based on case material, the discussion explores themes presented by…

Talking about AIDS in Hong Kong: Cultural Models in Public Health Discourse.

ERIC Educational Resources Information Center

Jones, Rodney H.

A study explored the issues of cultural identity and interaction in public health discourse concerning Acquired Immune Deficiency Syndrome (AIDS) in Hong Kong's multilingual, multicultural social context. Twenty public service announcements (PSAs) concerning AIDS awareness televised in both English and Cantonese in Hong Kong from 1987 to 1994 were…

AIDS: What Young Adults Should Know. Instructor's Guide and Student Guide.

ERIC Educational Resources Information Center

Yarber, William L.

This curriculum allows students to learn about Acquired Immune Deficiency Syndrome (AIDS) at their own pace. The Instructor's manual presents the goals of AIDS education in a three-session lesson plan. The manual also outlines eight learning opportunities to reinforce in students the personal health behaviors and attitudes emphasized in the guide.…

AIDS and the Education of Our Children: A Guide for Parents and Teachers.

ERIC Educational Resources Information Center

Department of Education, Washington, DC.

Guidelines for parents, teachers, and other adults to use in the education of children about acquired immune deficiency syndrome (AIDS) are presented in this document. The first part of the document presents a review of the known facts concerning the history and spread of AIDS. Specific topics discussed include AIDS symptoms, lack of a cure or…

Optometric Education's Challenge: AIDS in the Curriculum.

ERIC Educational Resources Information Center

Wilson, Roger J.

1988-01-01

A national survey of schools of optometry suggests that acquired immune deficiency syndrome (AIDS) needs to be more thoroughly addressed in some curricula. Suggestions are made for curriculum development in the areas of public health, basic coursework, immunology, clinical medicine, psychology, ocular manifestations, and contact lenses. (MSE)

Community-Based AIDS Outreach Efforts to Migrants.

ERIC Educational Resources Information Center

Carter, Linda J.; Jalloh, Mary Grenz

The Forsyth County (North Carolina) Health Department's Health Education Division developed a community-based Acquired Immune Deficiency Syndrome (AIDS) outreach program for migrants. The Migrant/Hispanic Center in Kernersville, North Carolina operates under the auspice of the Catholic Diocese of Charlotte and provides services to Hispanic…

Female Secondary School Adolescents' Sexual Behavior and School Based HIV/AIDS Education Program

ERIC Educational Resources Information Center

Inyang, Mfrekemfon P.

2013-01-01

Most adolescents engage in indiscriminate sexual experimentations. This practice exposes them to the risk of contracting sexually transmitted infections including HIV/AIDS. Human immunodeficiency virus (HIV) and acquired immune deficiency syndromes (AIDS) are among the deadly diseases that exist globally. Twice as many girls, compared to boys…

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.

PubMed

Ortigoza-Escobar, Juan Darío; Molero-Luis, Marta; Arias, Angela; Oyarzabal, Alfonso; Darín, Niklas; Serrano, Mercedes; Garcia-Cazorla, Angels; Tondo, Mireia; Hernández, María; Garcia-Villoria, Judit; Casado, Mercedes; Gort, Laura; Mayr, Johannes A; Rodríguez-Pombo, Pilar; Ribes, Antonia; Artuch, Rafael; Pérez-Dueñas, Belén

2016-01-01

Thiamine transporter-2 deficiency is caused by mutations in the SLC19A3 gene. As opposed to other causes of Leigh syndrome, early administration of thiamine and biotin has a dramatic and immediate clinical effect. New biochemical markers are needed to aid in early diagnosis and timely therapeutic intervention. Thiamine derivatives were analysed by high performance liquid chromatography in 106 whole blood and 38 cerebrospinal fluid samples from paediatric controls, 16 cerebrospinal fluid samples from patients with Leigh syndrome, six of whom harboured mutations in the SLC19A3 gene, and 49 patients with other neurological disorders. Free-thiamine was remarkably reduced in the cerebrospinal fluid of five SLC19A3 patients before treatment. In contrast, free-thiamine was slightly decreased in 15.2% of patients with other neurological conditions, and above the reference range in one SLC19A3 patient on thiamine supplementation. We also observed a severe deficiency of free-thiamine and low levels of thiamine diphosphate in fibroblasts from SLC19A3 patients. Surprisingly, pyruvate dehydrogenase activity and mitochondrial substrate oxidation rates were within the control range. Thiamine derivatives normalized after the addition of thiamine to the culture medium. In conclusion, we found a profound deficiency of free-thiamine in the CSF and fibroblasts of patients with thiamine transporter-2 deficiency. Thiamine supplementation led to clinical improvement in patients early treated and restored thiamine values in fibroblasts and cerebrospinal fluid. © The Author (2015). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

[Cornelia de Lange Syndrome and multiple hormonal deficiency, an unusual association. Clinical case].

PubMed

Mora-Bautista, Víctor M; Mendoza-Rojas, Víctor; Contreras-García, Gustavo A

2017-06-01

Cornelia de Lange syndrome is a genetic disease characterized by distinctive facial features, failure to thrive, microcephaly and several malformations associated. Its main endocrinological features are anomalies of the genitalia. We present a 13-year-old boy, who suffered from complicated aspiration pneumonia and showed Cornelia de Lange syndrome phenotype, with global developmental delay, suction-swallowing abnormalities, short stature and abnormal genitalia associated. His bone age was delayed, so he underwent full endocrinological panel. Central hypothyroidism, growth hormone deficiency and low luteinizing hormone-follicle-stimulating hormone levels were observed and multiple pituitary hormone deficiencies diagnosis was made. Basal cortisol, adrenocorticotropic hormone and prolactin levels were normal. He received thyroid hormonal substitution. Multiple pituitary hormone deficiencies are an unusual feature of De Lange syndrome. We suggest evaluating all different endocrine axes in these patients. Sociedad Argentina de Pediatría.

"A" Is for Applesauce. Alternate HIV/AIDS Educational Unit: Recognizing Prejudice.

ERIC Educational Resources Information Center

Iowa State Dept. of Education, Des Moines.

This manual was designed to help teachers of the early secondary grades deal with fear, ignorance, and prejudice in students encountering the problem of Acquired Immune Deficiency Syndrome (AIDS) and its transmission. Three groups of students are of particular concern: those who are victims of abusive remarks, those who feel AIDS is reserved for…

Lazarus and Group Psychotherapy: AIDS in the Era of Protease Inhibitors

ERIC Educational Resources Information Center

Gushue, George V.; Brazaitis, Sarah J.

2003-01-01

A new class of medications, protease inhibitors, has dramatically improved the health of many people with Human Immunodeficiency Virus (HIV) and Acquired Immune Deficiency Syndrome (AIDS). This development has had a major impact on the lives of those affected by HIV/AIDS. This article considers how a group is affected by the larger systems of…

AIDS: An Inter-Disciplinary Secondary Curriculum Supplement.

ERIC Educational Resources Information Center

Carr, Marianne

This curriculum guide to teaching secondary students about Acquired Immune Deficiency Syndrome (AIDS) using an interdisciplinary approach includes lessons that are meant to supplement the existing curriculum, but may be used to supplant existing lessons. Most of the lessons employ the investigative approach to learning and require student…

AIDS Education under Democracy: Gay Men, Sexual Dissent, and the Limits of Prevention.

ERIC Educational Resources Information Center

Rofes, Eric

This paper reviews past and current Acquired Immune Deficiency Syndrome (AIDS) education and prevention efforts, describes three specific phases of efforts, and analyzes AIDS education and prevention in relation to emancipatory models of education. First the paper reviews data measuring the transmission of Human Immunodeficiency Virus (HIV) among…

EFL Teachers' Perceptions of Strategy Deficiency Syndrome: A Grounded Theory Study

ERIC Educational Resources Information Center

Ostovar-Namaghi, Seyyed Ali; Ahmadabadi-Tak, Bahareh

2017-01-01

Strategy-deficient language learners struggle to develop their language proficiency through limiting and inappropriate strategies. This study aims at exploring experienced teachers' perceptions of strategy deficiency syndrome among EFL learners. To this end, the perspectives of a purposive sample of experienced teachers teaching in private…

Predictors of Intention To Take Precautions against AIDS among Black College Students.

ERIC Educational Resources Information Center

Tashakkori, Abbas; Thompson, Vaida D.

This research explored the effects of a number of factors derived from extant intention-behavior models on a general behavioral intention to engage in protection against Acquired Immune Deficiency Syndrome (AIDS) and a specific behavioral intention to use condoms as protection in vaginal sex. Data pertaining to beliefs, knowledge about AIDS, fear…

AIDS and Child Care: A Booklet for Child Care Workers, Management Committees and Parents.

ERIC Educational Resources Information Center

Fricke, Caroline; Glasson, Mark

This booklet provides Australians with basic information about the Acquired Immune Deficiency Syndrome (AIDS). Contents cover the definiton of AIDS, ways the disease is transmitted, Human Immunodeficiency Virus (HIV) antibody testing for adults and children, variations among children infected with HIV, information that HIV is not transmitted…

AIDS Epidemic. Hearing before the Committee on Labor and Human Resources. United States Senate, One Hundredth Congress, First Session on Reviewing Federal Efforts Being Conducted toward Combating the AIDS Epidemic.

ERIC Educational Resources Information Center

Congress of the U.S., Washington, DC. Senate Committee on Labor and Human Resources.

The text of a Senate hearing called to review federal efforts combating acquired immune deficiency syndrome (AIDS) is presented in this document. Opening statements reviewing the AIDS crisis are given by Senators Edward Kennedy and Lowell Weicker, Jr. Prepared statements are included by Senators Orrin Hatch and Ted Stevens. David Baltimore and…

Ultrastructural markers of lymph nodes in patients with acquired immune deficiency syndrome and in homosexual males with unexplained persistent lymphadenopathy. A quantitative study.

PubMed

Onerheim, R M; Wang, N S; Gilmore, N; Jothy, S

1984-09-01

To determine if vesicular rosettes (VR), tubuloreticular structures (TRS), and "test-tube and ring-shaped forms" (TRF) are characteristic ultrastructural features of the syndromes of acquired immune deficiency (AIDS) or of unexplained persistent lymphadenopathy (PLS), the authors studied lymph nodes from nine patients with PLS, two patients with AIDS, and seven controls by electron microscopy. An average of 122 lymphocytes per case were photographed. VR were present in only 0.37% of lymphocytes in 4 of 11 index cases and were mimicked by grouped vesicles and degenerating multivesicular bodies (MVB). TRS were found in 10 of 11 index cases, compared with only one of seven controls (P less than 0.01). In the index cases, they were more frequent in AIDS (mean 21%) than in PLS lymphocytes (mean 4%) (P less than 0.05). MVB were found in all index cases and five of seven controls and were more frequent in index lymphocytes (mean 19%) than in controls (mean 5%) (P less than 0.01). TRF were found in one Haitian male with AIDS, where they were present in 4% of lymphocytes. VR are infrequent and indistinct. MVB probably reflect the reactivity of the lymphocytes. TRF is not a feature of PLS. The authors conclude that there are no pathognomonic ultrastructural markers of AIDS or PLS but that TRS are characteristic of both syndromes and occur frequently enough to be supportive to the diagnosis of AIDS and PLS.

Conocimiento de Transmision de SIDA y Percepcion Hacia los Ninos con SIDA en el Salon de Clases de los Maestros de Educacion Especial (Knowledge of AIDS Transmission and Special Education Teachers' Attitudes towards Children with AIDS in the Classroom).

ERIC Educational Resources Information Center

Lopez de Williams, Milka

This Spanish-language master's thesis presents a study which measured special education teachers' knowledge of AIDS (Acquired Immune Deficiency Syndrome) virus transmission and their attitudes toward children with AIDS in schools. Attitudes were then related to social variables such as sex, teacher's age, and knowing someone with AIDS. A survey of…

Teaching about AIDS/HIV Disease to College Students.

ERIC Educational Resources Information Center

Heller, Joseph R.

This paper presents a psychology professor's account of his experiences teaching a course on Acquired Immune Deficiency Syndrome/Human Immunodeficiency Virus (AIDS/HIV) to college students. The first section discusses how to introduce and market the course on campus, and anticipate students' and colleagues' questions about one's motivations for…

Perceived Peer/Family Effects on Beliefs and Intentions of College Students Regarding AIDS-Preventive Behaviors.

ERIC Educational Resources Information Center

Tashakkori, Abbas; Cleaveland, Bonnie

With the increasing threat of Acquired Immune Deficiency Syndrome (AIDS), intensive educational programs are implemented and/or planned worldwide. It is usually assumed that providing information and generating concern leads to AIDS-preventive behaviors. Attitude theory and research in social psychology does not necessarily support this…

AIDS and Rational Suicide: A Counseling Psychology Perspective or a Slide on the Slippery Slope.

ERIC Educational Resources Information Center

Rogers, James R.; Britton, Paula J.

1994-01-01

Responds to Werth's (1992) arguing for rational suicide for individuals diagnosed with Acquired Immune Deficiency Syndrome (AIDS). Commends Werth's willingness to address issue of rational suicide for individuals diagnosed with AIDS, but expresses concerns about data supporting his rationale and implications for counseling psychology and society…

AIDS in the workplace: current practices and possible implications.

PubMed

Nykodym, N; Miners, I A; Simonetti, J L; Patel, N S

1989-01-01

The testing of Acquired Immune Deficiency Syndrome (AIDS) remains a political factor. Questions are being raised as to an individual's right to privacy and the public's concern for safety. Despite the controversy, the law protects contagious disease sufferers from employment discrimination. Along with AIDS testing, drug testing remains a controversial issue. Mandatory drug testing remains in both the public and private sectors. Legislative activity in California continues to the present.

AIDS: medicolegal considerations for Canadian hospitals.

PubMed

Johnson, B J; Soskolne, C L

1986-11-15

Given the increasing endemicity of human immunodeficiency virus (HIV), the agent implicated in the causation of acquired immune deficiency syndrome (AIDS), in numerous sizeable subgroups of society, hospitals can expect increasing exposure to the legal implications presented by patients with AIDS. This paper reviews the duty of care owed by hospitals, both directly, through contractual obligations, and indirectly, through the acts of their employees and private contractors, to patients with AIDS, other patients and the public. Owing to the absence of case law directly related to AIDS or to HIV antibody reactivity, inferences were drawn from precedents set with other infectious diseases. Recommendations are made in the areas of confidentiality, informed consent, standards of care and vicarious liability.

Representation of AIDS in Televised Public Service Announcements: The Discursive Practices of Government in the Constitution of Knowledge about AIDS.

ERIC Educational Resources Information Center

Myrick, Roger; And Others

Using a textualist approach (looking at meaning above and beyond overt message elements), a study examined televised public service announcements (PSAs) about Acquired Immune Deficiency Syndrome (AIDS) produced by the Ad Council and the United States Department of Health and Human Services. Both ads identify young people who should be concerned…

Confronting AIDS. Directions for Public Health, Health Care, and Research.

ERIC Educational Resources Information Center

Institute of Medicine (NAS), Washington, DC.

This book is addressed to anyone involved with or affected by the Acquired Immune Deficiency Syndrome (AIDS) epidemic, including legislators, researchers, health care personnel, insurance providers, educators, health officials, executives in the pharmaceutical industry, blood bank administrators, and other concerned individuals. The following…

A Local School District Implements a State Mandated Instructional Program on AIDS Prevention.

ERIC Educational Resources Information Center

Hall, Janie L.

Implementation of an Acquired Immune Deficiency Syndrome (AIDS) education program in Oklahoma is briefly outlined in the areas of the state mandate, local implementation, teacher training, parent meetings, and short and long courses. A study of the level of student knowledge about AIDS before and after instruction is described. Subjects were 7,145…

[Strategies to promote testosterone deficiency syndrome: a paradigm of disease mongering].

PubMed

Gavilán, Enrique; Jiménez de Gracia, Laura; Gérvas, Juan

2014-01-01

The so-called «testosterone deficiency syndrome» is a blend of nonspecific symptoms typical of the physiological process of aging. This syndrome has been the subject of intense promotional activity that has presented the phenomenon as highly prevalent and with a major public health impact. This strategy has been accompanied by the emergence of new and easy to administer testosterone devices into the pharmaceutical market and has generated significant sales for drug companies. The commercial promotion of testosterone deficiency syndrome and its remedies has exploited cultural stereotypes of aging and sexuality through awareness campaigns promoted by the laboratories involved and has been disseminated by media with the participation of numerous experts and with the support of scientific associations, representing a paradigmatic case of disease mongering. This example might be of use in the response to disease mongering activities from the clinical and public health fields. Copyright © 2013 SESPAS. Published by Elsevier Espana. All rights reserved.

Extenuating Circumstances in Perceptions of Suicide: Disease Diagnosis (AIDS, Cancer), Pain Level, and Life Expectancy.

ERIC Educational Resources Information Center

Martin, Stephen K.; Range, Lillian M.

1991-01-01

Examined whether illness type, pain level, and life expectancy affected reactions of undergraduates (n=160) toward a terminal illness suicide with Acquired Immune Deficiency Syndrome (AIDS) or cancer. AIDS patients were more stigmatized than cancer patients; suicide was more tolerated if victim was suffering greater pain. (Author/ABL)

Jenny's ABC's: AIDS, Blood, and Children. A Guide for Adults To Read with Elementary Age Children.

ERIC Educational Resources Information Center

Simpson, Christine

This guide, written in simple language appropriate for young children, uses a direct, conversational style to explain Acquired Immune Deficiency Syndrome (AIDS), how safely and comfortably to be with individuals who have AIDS, and how to avoid contracting the disease. The text is in the voice of an 11-year-old girl whose uncle died of AIDS. It…

Are Victims of AIDS 'Handicapped' under Federal Law?

ERIC Educational Resources Information Center

Flygare, Thomas J.

1986-01-01

Discusses whether the disease AIDS (Acquired Immune Deficiency Syndrome) could be considered a "handicap." Describes a recent court decision, "Arline vs. School Board of Nassau County," in which the court found that a teacher with tuberculosis could be defined as handicapped and that her dismissal was in violation of Section…

Death and Its Rituals in Novels on AIDS.

ERIC Educational Resources Information Center

Levy, Joseph J.; Nouss, Alexis

1993-01-01

Reviews novels dealing with the Acquired Immune Deficiency Syndrome (AIDS) epidemic, noting that their perspectives on death can be extracted through content analysis. Concludes that, overall, these novels present weak symbolization about death with rituals that are not highly elaborated and that complex images of the afterlife are not offered.…

NAD(P)H: Quinone Oxidoreductase 1 Deficiency Conjoint with Marginal Vitamin C Deficiency Causes Cigarette Smoke Induced Myelodysplastic Syndromes

PubMed Central

Das, Archita; Dey, Neekkan; Ghosh, Arunava; Das, Tanusree; Chatterjee, Indu B.

2011-01-01

Background The etiology of myelodysplastic syndromes (MDS) is largely unknown. Exposure to cigarette smoke (CS) is reported to be associated with MDS risk. There is inconsistent evidence that deficiency of NAD(P)H-quinone: oxidoreductase 1 (NQO1) increases the risk of MDS. Earlier we had shown that CS induces toxicity only in marginal vitamin C-deficient guinea pigs but not in vitamin C-sufficient ones. We therefore considered that NQO1 deficiency along with marginal vitamin C deficiency might produce MDS in CS-exposed guinea pigs. Methodology and Principal Findings Here we show that CS exposure for 21 days produces MDS in guinea pigs having deficiency of NQO1 (fed 3 mg dicoumarol/day) conjoint with marginal vitamin C deficiency (fed 0.5 mg vitamin C/day). As evidenced by morphology, histology and cytogenetics, MDS produced in the guinea pigs falls in the category of refractory cytopenia with unilineage dysplasia (RCUD): refractory anemia; refractory thrombocytopenia that is associated with ring sideroblasts, micromegakaryocytes, myeloid hyperplasia and aneuploidy. MDS is accompanied by increased CD34(+) cells and oxidative stress as shown by the formation of protein carbonyls and 8-oxodeoxyguanosine. Apoptosis precedes MDS but disappears later with marked decrease in the p53 protein. MDS produced in the guinea pigs are irreversible. MDS and all the aforesaid pathophysiological events do not occur in vitamin C-sufficient guinea pigs. However, after the onset of MDS vitamin C becomes ineffective. Conclusions and Significance CS exposure causes MDS in guinea pigs having deficiency of NQO1 conjoint with marginal vitamin C deficiency. The syndromes are not produced in singular deficiency of NQO1 or marginal vitamin C deficiency. Our results suggest that human smokers having NQO1 deficiency combined with marginal vitamin C deficiency are likely to be at high risk for developing MDS and that intake of a moderately large dose of vitamin C would prevent MDS. PMID:21655231

Severe chronic iron deficiency anaemia secondary to Trichuris dysentery syndrome - a case report.

PubMed

Azira N, M S; Zeehaida, M

2012-12-01

Trichuris dysentery syndrome is caused by Trichuris trichiura which contributes to one of the most common helminthic infections in the world. It is associated with heavy colonic infection that manifests as mucoid diarrhoea, rectal bleeding, rectal prolapse, iron deficiency anaemia, and finger clubbing. Here, we report a case of trichuris dysentery syndrome complicated with severe chronic iron deficiency anaemia in a 4-year-old girl who required blood transfusion. The nematode was visualized on stool microscopic and colonoscopic examination. A longer duration of anti-helminthic treatment is required to achieve effective and better outcome.

Cat eye syndrome and growth hormone deficiency with pituitary anomalies: a case report and review of the literature.

PubMed

Melo, Cláudia; Gama-de-Sousa, Susana; Almeida, Filipa; Rendeiro, Paula; Tavares, Purificação; Cardoso, Helena; Carvalho, Sónia

2013-10-15

Cat eye syndrome is a rare congenital disease characterized by the existence of a supernumerary chromosome derived from chromosome 22, with a variable phenotype comprising anal atresia, coloboma of the iris and preauricular tags or pits. We report a girl with cat eye syndrome, presenting short stature, with growth hormone deficiency due to posterior pituitary ectopia. Short stature is a common feature of this syndrome, and the association with a structural pituitary anomaly has been described, however growth hormone deficiency and the underlying mechanisms are rarely reported. A review on short stature and growth hormone deficiency in cat eye syndrome is conducted. © 2013 Elsevier B.V. All rights reserved.

Constitutional mismatch repair deficiency syndrome: Do we know it?

PubMed

Ramachandra, C; Challa, Vasu Reddy; Shetty, Rachan

2014-04-01

Constitutional mismatch repair deficiency syndrome is a rare autosomal recessive syndrome caused by homozygous mutations in mismatch repair genes. This is characterized by the childhood onset of brain tumors, colorectal cancers, cutaneous manifestations of neurofibromatosis-1 like café au lait spots, hematological malignancies, and occasionally other rare malignancies. Here, we would like to present a family in which the sibling had glioblastoma, and the present case had acute lymphoblastic lymphoma and colorectal cancer. We would like to present this case because of its rarity and would add to literature.

The Impact of Information on AIDS Risk Judgments and Behavioral Change among Young Adults.

ERIC Educational Resources Information Center

Dunwoody, Sharon; Neuwirth, Kurt

Participants in the debate on the media's role in the current AIDS (Acquired Immune Deficiency Syndrome) epidemic implicitly adopt a set of underlying assumptions about media processes and effects: information about AIDS proffered by the media has the capacity to influence estimates of risk, personal levels of concern, and extent of behavioral…

Refractory and/or Relapsing Cryptococcosis Associated with Acquired Immune Deficiency Syndrome: Clinical Features, Genotype, and Virulence Factors of Cryptococcus spp. Isolates.

PubMed

Nascimento, Erika; Vitali, Lucia H; Tonani, Ludmilla; Kress, Marcia R Von Zeska; Takayanagui, Osvaldo M; Martinez, Roberto

2016-05-04

Refractory and relapsing crytocococcosis in acquired immune deficiency syndrome (AIDS) patients have a poor prognosis. The risk factors for this complicated infection course were evaluated by comparing refractory and/or relapsing cryptococcosis in human immunodeficiency virus-coinfected patients (cohort 1) with another group of AIDS patients who adequately responded to antifungals (cohort 2). Except for one isolate of Cryptococcus gattii from a cohort 2 case, all other isolates were identified as Cryptococcus neoformans var. grubii, sex type α, genotype VNI, including Cryptococcus reisolated from the relapse or in the refractory state. No differences were observed with respect to Cryptococcus capsule size and in the melanin and phospholipase production. The cohort 1 patients presented higher prevalence of cryptococcemia, cerebral dissemination, chronic liver disease, and leucopenia, and have increased death rate. Apparently, the refractory and/or relapsing cryptococcosis in the AIDS patients were more related to the host and the extent of the infection than to the fungal characteristics. © The American Society of Tropical Medicine and Hygiene.

Planning, Implementation, and Evaluation of AIDS Education Programs for Dentists.

ERIC Educational Resources Information Center

Gerbert, Barbara; And Others

1991-01-01

An office-based continuing education program on acquired immune deficiency syndrome (AIDS) for dentists is described, including needs assessment, model development, local piloting, national implementation with 119 dentists, and evaluation phases. Program evaluation indicated an improvement in risk perception, knowledge, and practice resulted, but…

Guidelines on AIDS in Europe. First Revised Edition.

ERIC Educational Resources Information Center

Zoffmann, H.; And Others

The problem of acquired immune deficiency syndrome (AIDS) in Europe and public health measures that can be taken to reduce the spread of infection are discussed. These guidelines cover: the magnitude of the problem in Europe, the virus and its mode of transmission, major clinical features of the disease, laboratory tests, possibilities of…

Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.

PubMed

Stockler, Sylvia; Schutz, Peter W; Salomons, Gajja S

2007-01-01

Cerebral creatine deficiency syndromes (CCDSs) are a group of inborn errors of creatine metabolism comprising two autosomal recessive disorders that affect the biosynthesis of creatine--i.e. arginine:glycine amidinotransferase deficiency (AGAT; MIM 602360) and guanidinoacetate methyltransferase deficiency (GAMT; MIM 601240)--and an X-linked defect that affects the creatine transporter, SLC6A8 deficiency (SLC6A8; MIM 300036). The biochemical hallmarks of these disorders include cerebral creatine deficiency as detected in vivo by 1H magnetic resonance spectroscopy (MRS) of the brain, and specific disturbances in metabolites of creatine metabolism in body fluids. In urine and plasma, abnormal guanidinoacetic acid (GAA) levels are found in AGAT deficiency (reduced GAA) and in GAMT deficiency (increased GAA). In urine of males with SLC6A8 deficiency, an increased creatine/creatinine ratio is detected. The common clinical presentation in CCDS includes mental retardation, expressive speech and language delay, autistic like behaviour and epilepsy. Treatment of the creatine biosynthesis defects has yielded clinical improvement, while for creatine transporter deficiency, successful treatment strategies still need to be discovered. CCDSs may be responsible for a considerable fraction of children and adults affected with mental retardation of unknown etiology. Thus, screening for this group of disorders should be included in the differential diagnosis of this population. In this review, also the importance of CCDSs for the unravelling of the (patho)physiology of cerebral creatine metabolism is discussed.

AIDS in South Africa: Therapeutic Interventions to Strengthen Resilience among Orphans and Vulnerable Children

ERIC Educational Resources Information Center

Heath, Melissa Allen; Donald, David R.; Theron, Linda C.; Lyon, Rachel Crook

2014-01-01

Worldwide, approximately 10% of the 34.2 million individuals infected by human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS) are under the age of 18. Additionally, 17.8 million children have experienced one or both parents dying of HIV/AIDS. In comparison to other countries, South Africa has the highest per capita of…

Computer-Aided Methodology for Syndromic Strabismus Diagnosis.

PubMed

Sousa de Almeida, João Dallyson; Silva, Aristófanes Corrêa; Teixeira, Jorge Antonio Meireles; Paiva, Anselmo Cardoso; Gattass, Marcelo

2015-08-01

Strabismus is a pathology that affects approximately 4 % of the population, causing aesthetic problems reversible at any age and irreversible sensory alterations that modify the vision mechanism. The Hirschberg test is one type of examination for detecting this pathology. Computer-aided detection/diagnosis is being used with relative success to aid health professionals. Nevertheless, the routine use of high-tech devices for aiding ophthalmological diagnosis and therapy is not a reality within the subspecialty of strabismus. Thus, this work presents a methodology to aid in diagnosis of syndromic strabismus through digital imaging. Two hundred images belonging to 40 patients previously diagnosed by an specialist were tested. The method was demonstrated to be 88 % accurate in esotropias identification (ET), 100 % for exotropias (XT), 80.33 % for hypertropias (HT), and 83.33 % for hypotropias (HoT). The overall average error was 5.6Δ and 3.83Δ for horizontal and vertical deviations, respectively, against the measures presented by the specialist.

AIDS: medicolegal considerations for Canadian hospitals.

PubMed Central

Johnson, B J; Soskolne, C L

1986-01-01

Given the increasing endemicity of human immunodeficiency virus (HIV), the agent implicated in the causation of acquired immune deficiency syndrome (AIDS), in numerous sizeable subgroups of society, hospitals can expect increasing exposure to the legal implications presented by patients with AIDS. This paper reviews the duty of care owed by hospitals, both directly, through contractual obligations, and indirectly, through the acts of their employees and private contractors, to patients with AIDS, other patients and the public. Owing to the absence of case law directly related to AIDS or to HIV antibody reactivity, inferences were drawn from precedents set with other infectious diseases. Recommendations are made in the areas of confidentiality, informed consent, standards of care and vicarious liability. PMID:3464340

A Clash of Symbols: An Analysis of Competing Images and Arguments in the AIDS Controversy.

ERIC Educational Resources Information Center

Gilder, Eric

Efforts to contain the spread of Acquired Immune Deficiency Syndrome (AIDS) have been slowed by numerous arguing factions, political, religious, and medical, all of which perceive the AIDS epidemic through a different set of symbols. The images can be more easily understood using Kenneth Boulding's Threat, Integry, and Exchange (or TIE) model. The…

Safe Sex and Dangerous Poems: AIDS, Literature and the Gay and Lesbian Community College Student.

ERIC Educational Resources Information Center

Engler, Robert Klein

Some of the denial and fear that accompanies homosexuality and the Acquired Immune Deficiency Syndrome (AIDS) can be dealt with by discussing the following three issues: the AIDS epidemic, the problems of gay and lesbian community college students, and finally, the teaching of literature--especially poetry. Exploring both poetry and the AIDS…

Facilitating Support Groups for Professionals Working with People with AIDS.

ERIC Educational Resources Information Center

Grossman, Arnold H.; Silverstein, Charles

1993-01-01

Describes support groups for health care professionals who work with people with human immunodeficiency virus (HIV) or Acquired Immune Deficiency Syndrome (AIDS) and who are experiencing burnout from excessive demands on their energy, strength, and resources. Discusses group administration, effective intervention techniques, and issues of health…

AIDS on Campus: Emerging Issues for College and University Administrators.

ERIC Educational Resources Information Center

Steinbach, Sheldon Elliot

Legal information concerning Acquired Immune Deficiency Syndrome (AIDS) that college presidents may find helpful in establishing policies and procedures is provided in a paper by the general counsel of the American Council on Education. Sources of medical information, including the American College Health Association, hotlines, and federal…

Campuses Confront AIDS: Tapping the Vitality of Caring and Community.

ERIC Educational Resources Information Center

Keeling, Richard P.

1993-01-01

In response to needs created by the acquired immune deficiency syndrome (AIDS) epidemic, colleges and universities have struggled to develop or redesign policies and services to promote behavioral change. Effective institutional response requires comprehensive policy, services and referral, and education and prevention focusing on identity and…

Defect in IgV gene somatic hypermutation in common variable immuno-deficiency syndrome.

PubMed

Levy, Y; Gupta, N; Le Deist, F; Garcia, C; Fischer, A; Weill, J C; Reynaud, C A

1998-10-27

Common Variable Immuno-Deficiency (CVID) is the most common symptomatic primary antibody-deficiency syndrome, but the basic immunologic defects underlying this syndrome are not well defined. We report here that among eight patients studied (six CVID and two hypogammaglobulinemic patients with recurrent infections), there is in two CVID patients a dramatic reduction in Ig V gene somatic hypermutation with 40-75% of IgG transcripts totally devoid of mutations in the circulating memory B cell compartment. Functional assays of the T cell compartment point to an intrinsic B cell defect in the process of antibody affinity maturation in these two cases.

Experiencing an Epidemic: The Development of an AIDS Education Program for Community College Students in Maryland.

ERIC Educational Resources Information Center

Rochlin, Joyce T.

In 1991, a project was undertaken to suggest components for an Acquired Immune Deficiency Syndrome (AIDS) education program for community college students. The project sought to identify AIDS programs and policies in place at the 17 community colleges in Maryland; assessed community college students' knowledge about the spread and prevention of…

Facial morphometry of Ecuadorian patients with growth hormone receptor deficiency/Laron syndrome.

PubMed Central

Schaefer, G B; Rosenbloom, A L; Guevara-Aguirre, J; Campbell, E A; Ullrich, F; Patil, K; Frias, J L

1994-01-01

Facial morphometry using computerised image analysis was performed on patients with growth hormone receptor deficiency (Laron syndrome) from an inbred population of southern Ecuador. Morphometrics were compared for 49 patients, 70 unaffected relatives, and 14 unrelated persons. Patients with growth hormone receptor deficiency showed significant decreases in measures of vertical facial growth as compared to unaffected relatives and unrelated persons with short stature from other causes. This report validates and quantifies the clinical impression of foreshortened facies in growth hormone receptor deficiency. Images PMID:7815422

Toward an Understanding of (EM)Power(Ment) for HIV/AIDS Prevention with Adolescent Women.

ERIC Educational Resources Information Center

Gutierrez, Lorraine; Oh, Hyun Joo; Gillmore, Mary Rogers

Preventing the spread of Acquired Immune Deficiency Syndrome (AIDS) among women is a national priority. In the United States, AIDS is the sixth leading cause of death among young adult women, and their rate of infection is four times higher than men. This article was developed to help stimulate interest in the power dynamics of relationships and…

Strategies for Implementing AIDS/HIV Policy Guidelines in Developmental and Mental Health Services: A Background and Checklist for Advocates. AIDS Technical Report, No. 3.

ERIC Educational Resources Information Center

Harvey, David C.

This technical report is part of a series on AIDS/HIV (Acquired Immune Deficiency Syndrome/Human Immunodeficiency Virus) and is intended to help link various legal advocacy organizations providing services to persons with mental illness or developmental disabilities. Through a series of case examples, questions, background information, and…

How To Talk to Your Teens and Children about AIDS = Como hablar con sus adolescentes y sus ninos sobre el SIDA.

ERIC Educational Resources Information Center

National PTA, Chicago, IL.

Two brochures, one in English and one in Spanish, provide parents with basic information that will enable them to educate their children about Acquired Immune Deficiency Syndrome (AIDS). Contents address 11 questions: (1) What is AIDS? (2) How do you get AIDS? (3) How is AIDS not spread? (4) Who can get AIDS? (5) How can you tell if someone has…

Identifying risk factors of immune reconstitution inflammatory syndrome in AIDS patients receiving highly active anti-retroviral therapy.

PubMed

He, Bo; Zheng, Yuhuang; Liu, Meng; Zhou, Guoqiang; Chen, Xia; Mamadou, Diallo; He, Yan; Zhou, Huaying; Chen, Zi

2013-01-01

Immune reconstitution inflammation syndrome typically occurs within days after patients undergo highly active anti-retroviral therapy and is a big hurdle for effective treatment of AIDS patients. In this study, we monitored immune reconstitution inflammation syndrome occurrence in 238 AIDS patients treated with highly active anti-retroviral therapy. Among them, immune reconstitution inflammation syndrome occurred in 47 cases (19.7%). Immune reconstitution inflammation syndrome patients had significantly higher rate of opportunistic infection (p<0.001) and persistently lower CD4(+) cell count (p<0.001) compared to the non-immune reconstitution inflammation syndrome patients. In contrast, no significant differences in HIV RNA loads were observed between the immune reconstitution inflammation syndrome group and non-immune reconstitution inflammation syndrome group. These data suggest that a history of opportunistic infection and CD4(+) cell counts at baseline may function as risk factors for immune reconstitution inflammation syndrome occurrence in AIDS patients as well as potential prognostic markers. These findings will improve the management of AIDS with highly active anti-retroviral therapy. Copyright © 2013 Elsevier Editora Ltda. All rights reserved.

Detection of AIDS Virus in Macrophages in Brain Tissue from AIDS Patients with Encephalopathy

NASA Astrophysics Data System (ADS)

Koenig, Scott; Gendelman, Howard E.; Orenstein, Jan M.; Canto, Mauro C.; Pezeshkpour, Gholam H.; Yungbluth, Margaret; Janotta, Frank; Aksamit, Allen; Martin, Malcolm A.; Fauci, Anthony S.

1986-09-01

One of the common neurological complications in patients with the acquired immune deficiency syndrome (AIDS) is a subacute encephalopathy with progressive dementia. By using the techniques of cocultivation for virus isolation, in situ hybridization, immunocytochemistry, and transmission electron microscopy, the identity of an important cell type that supports replication of the AIDS retrovirus in brain tissue was determined in two affected individuals. These cells were mononucleated and multinucleated macrophages that actively synthesized viral RNA and produced progeny virions in the brains of the patients. Infected brain macrophages may serve as a reservoir for virus and as a vehicle for viral dissemination in the infected host.

Seasons: The National Native American AIDS Prevention Center Quarterly. 1993.

ERIC Educational Resources Information Center

Rush, Andrea Green, Ed.

1993-01-01

The three 1993 issues of "Seasons" (the Spring/Summer issues are combined) address various aspects of dealing with Acquired Immune Deficiency Syndrome (AIDS) and Human Immunodeficiency Virus (HIV) among Native Americans. The Winter issue focuses on tuberculosis (TB) and its incidence and treatment among HIV-positive individuals.…

Experiencing an Epidemic: A Seminar Designed To Explore the Spread and Prevention of the AIDS Virus.

ERIC Educational Resources Information Center

Rochlin, Joyce T.

A seminar was designed to present AIDS (Acquired Immune Deficiency Syndrome) related information to 52 college students enrolled in Psychology 101 courses at Essex Community College in Maryland. First, a questionnaire was administered to determine student knowledge about AIDS. The next part of the procedure was an intervention in the form of a…

The Evaluation of Educational Help in Aids Prevention among Youth for Educators Working Outside the School.

ERIC Educational Resources Information Center

Gaudreau, Louise; And Others

Training of professionals as educators in the Acquired Immune Deficiency Syndrome (AIDS) and sex education domains has been seen as part of the solution to slow down the Human Immunodeficiency Virus (HIV) transmission and eventually stop it. This study evaluated an educational guide for AIDS prevention which was distributed to youth workers…

AIDS Knowledge and Attitudes, Provisional Data from the National Health Interview Survey: United States, August 1987. Advance Data from Vital and Health Statistics. No. 146.

ERIC Educational Resources Information Center

Dawson, Deborah A.; And Others

This document presents provisional data for all Acquired Immune Deficiency Syndrome (AIDS) questionnaire items from the National Health Interview Survey (NHIS) for August 1987. It notes that the AIDS questionnaire was designed to provide baseline estimates of public knowledge and attitudes about AIDS transmission, the prevention of AIDS virus…

The analysis of HIV/AIDS drug-resistant on networks

NASA Astrophysics Data System (ADS)

Liu, Maoxing

2014-01-01

In this paper, we present an Human Immunodeficiency Virus (HIV)/Acquired Immune Deficiency Syndrome (AIDS) drug-resistant model using an ordinary differential equation (ODE) model on scale-free networks. We derive the threshold for the epidemic to be zero in infinite scale-free network. We also prove the stability of disease-free equilibrium (DFE) and persistence of HIV/AIDS infection. The effects of two immunization schemes, including proportional scheme and targeted vaccination, are studied and compared. We find that targeted strategy compare favorably to a proportional condom using has prominent effect to control HIV/AIDS spread on scale-free networks.

Growth hormone deficiency in treated acromegaly and active Cushing's syndrome.

PubMed

Formenti, Anna Maria; Maffezzoni, Filippo; Doga, Mauro; Mazziotti, Gherardo; Giustina, Andrea

2017-02-01

Growth hormone deficiency (GHD) in adults is characterized by reduced quality of life and physical fitness, skeletal fragility, increased weight and cardiovascular risk. It may be found in (over-) treated acromegaly as well as in active Cushing's syndrome. Hypopituitarism may develop in patients after definitive treatment of acromegaly, although the exact prevalence of GHD in this population is still uncertain because of limited awareness, and scarce and conflicting data so far available. Because GHD associated with acromegaly and Cushing's syndrome may yield adverse consequences on similar target systems, the final outcomes of some complications of both acromegaly and Cushing's syndrome may be further affected by the occurrence of GHD. It is still largely unknown, however, whether GHD in patients with post-acromegaly or active Cushing's syndrome (e.g. pharmacologic glucocorticoid treatment) may benefit from GH replacement. We review the diagnostic, clinical and therapeutic aspects of GHD in adults treated for acromegaly and in those with active Cushing's syndrome. Copyright © 2017 Elsevier Ltd. All rights reserved.

Nutrition support of the pediatric patient with AIDS.

PubMed

Bentler, M; Stanish, M

1987-04-01

Maintaining optimal nutrition in the pediatric patient with Acquired Immune Deficiency Syndrome (AIDS) is challenging, but it may be one of the most effective therapies. Patients experience numerous complications that compromise nutritional status. Infection, fever, diarrhea, feeding problems, and decreased intake all contribute to malnutrition, which in turn predisposes the patient even more to infection and malabsorption. Nutrition assessment should be done routinely so that new problems may be identified and treated. High-calorie, high-protein feedings, vitamin supplementation, and, when necessary, gavage feedings or parenteral nutrition are recommended to improve nutritional status and prevent further deficits. Maintaining optimal nutrition in the pediatric patient with Acquired Immune Deficiency Syndrome (AIDS) poses a significant challenge to the health care team. Patients may experience numerous complications that compromise nutritional status. The patient is at high risk for opportunistic infections, especially of the lungs, central nervous system, gastrointestinal (GI) tract, and skin. Such infections are common causes of morbidity and mortality. Impaired nutritional status may further impair the patient's immunocompetence. A study by Kotler and Gaety demonstrated severe progressive malnutrition in adult AIDS patients, with the lowest measures of lean body mass occurring in those patients close to death at the time of the study. While no studies of children with AIDS have been done to date, we have subjectively observed feeding problems, weight loss, and malnutrition in most of the patients we have seen.

[metabonomics research on coronary heart disease patients of phlegm turbidity syndrome and qi deficiency syndrome].

PubMed

Cheng, Peng; Chen, Ze-qi; Wang, Dong-sheng

2015-02-01

To study the correlation between Chinese medical types of coronary heart disease (CHD) [i.e., phlegm turbidity syndrome (PTS) and qi deficiency syndrome (QDS)] and their metabolites. Recruited were 65 CHD patients including 37 cases of PTS and 28 cases of QDS. Serum endogenous metabolites in the two syndrome types were determined by gas chromatograph-mass spectrometer-computer (GC/MS), and their differences between their metabolic profiles analyzed. More than 100 chromatographic peaks were totally scanned. Chromatograms obtained was matched with mass spectrum bank, and finally we got the category contribution value of 46 kinds of substances. Results of MCTree analysis showed patients of PTS and patients of QDS could be effectively distinguished. Compounds contributing to identify the two syndromes were sequenced as serine, valine, 2 hydroxy propionic acid. Comparison of metabolites showed contents of serine and 2 hydroxy propionic acid were higher in patients of PTS than in patients of QDS (P<0.05). The differences in the metabonomics of CHD TCM syndrome types could provide material bases for TCM syndrome differentiation of CHD, indicating that metabonomics technologies might become a new research method for TCM syndrome typing.

AIDS and HIV. Policy Guidelines for Boards. Campus Life Policy Series.

ERIC Educational Resources Information Center

Keeling, Richard P.

1992-01-01

The report is designed to inform members of college and university and administration governing boards about facts and issues surrounding acquired immune deficiency syndrome (AIDS) and the human immunodeficiency virus (HIV) so that they may develop education and prevention programs for their institutions and ensure protection from accidental…

Why AIDS? The Mystery of How HIV Attacks the Immune System.

ERIC Educational Resources Information Center

Christensen, Damaris

1999-01-01

Reviews differing theories surrounding the mystery of how human immunodeficiency virus (HIV) attacks the immune system. Claims that understanding how HIV triggers immune-cell depletion may enable researchers to block its effects. New knowledge could reveal strategies for acquired immune deficiency syndrome (AIDS) therapies that go beyond the drugs…

AIDS Resource Directory and Repertoire de ressources sur le SIDA.

ERIC Educational Resources Information Center

Department of National Health and Welfare, Ottawa (Ontario).

This set of documents presents directories of resources on the topic of Acquired Immune Deficiency Syndrome (AIDS) available in Canada in English and in French. The first section in each directory contains a list of names, addresses, and telephone numbers of organizations from which readers may obtain the listed resources. Resources are then…

AIDS: New Challenge to the Counseling Psychologist in Private Practice.

ERIC Educational Resources Information Center

Fradkin, Howard R.

Counseling psychologists, especially those who work with homosexual men, may find that Acquired Immune Deficiency Syndrome (AIDS) is a major focus of their work. Therapists must be comfortable talking explicitly with these clients about sex, and must be able to help clients talk explicitly about their behavior. Clients often feel ambivalent about…

Gender Differences in AIDS-Relevant Condom Attitudes and Condom Use.

ERIC Educational Resources Information Center

Sacco, William P.; And Others

Many heterosexuals have not altered their sexual practices in response to the threat of Acquired Immune Deficiency Syndrome (AIDS). Knowledge of risk alone appears to have little effect on altering sexual behavior; more complex psychological factors seem to be involved. Condom use to prevent the spread of Human Immunodeficiency Virus is a unique…

Gambling with Your Health: Predictors of Risk for AIDS.

ERIC Educational Resources Information Center

Lasorsa, Dominic L.; Shoemaker, Pamela J.

To examine risk for Acquired Immune Deficiency Syndrome (AIDS) in terms of risk-related behaviors, and to investigate the factors that may be involved in putting one at risk, a study conducted telephone interviews with 493 randomly selected adults (18 years or older) in Austin, Texas in the fall of 1987. Respondents answered approximately 40…

Illusions of Immortality: The Confrontation of Adolescence and AIDS.

ERIC Educational Resources Information Center

New York State Dept. of Health, Albany.

Acquired Immune Deficiency Syndrome (AIDS) is a potent and a present danger for teenagers, casting a dark shadow over their lives now and in the future. A small, but significant, number of teenagers will develop Human Immune Virus (HIV)-related illness before they turn 20; a far greater number will become infected with the virus during…

Health Educators in the Workplace: Helping Companies Respond to the AIDS Crisis.

ERIC Educational Resources Information Center

Bauman, Laurie J.; Aberth, John

1986-01-01

This article identifies various dimensions of the AIDS (Acquired Immune Deficiency Syndrome)-related issues emerging in corporations nationwide, including confidentiality, the right of patients to work, benefits and insurance, HTLV-III (Human T-Lymphotropic Type III) screening, fears of contagion among workers, needs of companies to avoid…

Serum metabolomics strategy for understanding pharmacological effects of ShenQi pill acting on kidney yang deficiency syndrome.

PubMed

Nan, Yang; Zhou, Xiaohang; Liu, Qi; Zhang, Aihua; Guan, Yu; Lin, Shanhua; Kong, Ling; Han, Ying; Wang, Xijun

2016-07-15

Kidney yang deficiency syndrome, a diagnostic pattern in Chinese medicine, is similar with clinical features of the glucocorticoid withdrawal syndrome. The aim of this present study was to explore low molecular mass differentiating metabolites between control group and model group of kidney yang deficiency rats induced with corticosterone as well as the therapeutic effect of Shen Qi Pill, a classic traditional Chinese medicine formula for treating Kidney yang deficiency syndrome in China. This study utilized ultra-performance liquid chromatography coupled with electrospray ionization synapt quadrupole time-of-flight high definition mass spectrometry (UPLC/ESI-SYNAPT-QTOF-HDMS) to identify the underlying biomarkers for clarifying mechanism of Shen Qi Pill in treating Kidney yang deficiency syndrome based on metabolite profiling of the serum samples and in conjunction with multivariate and pathway analysis. Meanwhile, blood biochemistry assay and histopathology were examined to identify specific changes in the model group rats. Distinct changes in the pattern of metabolites were observed by UPLC-HDMS. The changes in metabolic profiling were restored to their baseline values after treatment with Shen Qi Pill according to the combined with a principal component analysis (PCA) score plots. Altogether, the current metabolomics approach based on UPLC-HDMS and orthogonal projection to latent structures discriminate analysis (OPLS-DA) demonstrated 27 ions (18 in the negative mode, 9 in the positive mode, 17 ions restored by Shen Qi Pill). These results indicated that effectiveness of Shen Qi Pill in Kidney yang deficiency syndrome rats induced a substantial change in the metabolic profiles by regulating the biomarkers and adjusting the metabolic disorder. It suggested that the metabolomics approach was a powerful approach for elucidation of pathologic changes of Chinese medicine syndrome and action mechanisms of traditional Chinese medicine. Copyright © 2015 Elsevier B

AIDS:Information on Global Dimensions and Possible Impacts. Fact Sheet to the Honorable Jesse Helms, U.S. Senate.

ERIC Educational Resources Information Center

General Accounting Office, Washington, DC.

Information is provided on the impact of the Human Immunodeficiency Virus (HIV) and Acquired Immune Deficiency Syndrome (AIDS) on world population and demographics and the likely effects of AIDS on Zaire. The views of United States and World Health Organization (WHO) officials were obtained on regional differences in the incidence and natural…

If Your Child Had AIDS...: Responses of Parents with Homosexual Children.

ERIC Educational Resources Information Center

Cleveland, Peggy H.; And Others

1988-01-01

Assessed the attitudes of parents of homosexual children, primarily members of support groups for parents of lesbians/gays, were they to discover their child(ren) had Acquired Immune Deficiency Syndrome (AIDS). Responses indicated devastation at the thought, with persistence of a bond between parent and child, though parents felt ambivalent…

Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome).

PubMed

Buchanan, Daniel D; Rosty, Christophe; Clendenning, Mark; Spurdle, Amanda B; Win, Aung Ko

2014-01-01

Carriers of a germline mutation in one of the DNA mismatch repair (MMR) genes have a high risk of developing numerous different cancers, predominantly colorectal cancer and endometrial cancer (known as Lynch syndrome). MMR gene mutation carriers develop tumors with MMR deficiency identified by tumor microsatellite instability or immunohistochemical loss of MMR protein expression. Tumor MMR deficiency is used to identify individuals most likely to carry an MMR gene mutation. However, MMR deficiency can also result from somatic inactivation, most commonly methylation of the MLH1 gene promoter. As tumor MMR testing of all incident colorectal and endometrial cancers (universal screening) is becoming increasingly adopted, a growing clinical problem is emerging for individuals who have tumors that show MMR deficiency who are subsequently found not to carry an MMR gene mutation after genetic testing using the current diagnostic approaches (Sanger sequencing and multiplex ligation-dependent probe amplification) and who also show no evidence of MLH1 methylation. The inability to determine the underlying cause of tumor MMR deficiency in these "Lynch-like" or "suspected Lynch syndrome" cases has significant implications on the clinical management of these individuals and their relatives. When the data from published studies are combined, 59% (95% confidence interval [CI]: 55% to 64%) of colorectal cancers and 52% (95% CI: 41% to 62%) of endometrial cancers with MMR deficiency were identified as suspected Lynch syndrome. Recent studies estimated that colorectal cancer risk for relatives of suspected Lynch syndrome cases is lower than for relatives of those with MMR gene mutations, but higher than for relatives of those with tumor MMR deficiency resulting from methylation of the MLH1 gene promoter. The cause of tumor MMR deficiency in suspected Lynch syndrome cases is likely due to either unidentified germline MMR gene mutations, somatic cell mosaicism, or biallelic somatic

A Generation in Jeopardy: Children and AIDS. A Report of the Select Committee on Children, Youth, and Families. U.S. House of Representatives, One Hundredth Congress, First Session (December 1987).

ERIC Educational Resources Information Center

Congress of the U.S., Washington, DC. House Select Committee on Children, Youth, and Families.

This document presents a Congressional report on the topic of children and Acquired Immune Deficiency Syndrome (AIDS). These topics are addressed: (1) dramatic increases in AIDS among infants and young children; (2) differences in pediatric AIDS and AIDS among adults; (3) minority children's disproportional rate of infection with AIDS; (4)…

Audiological and electrophysiological evaluation of children with acquired immunodeficiency syndrome (AIDS).

PubMed

Matas, Carla Gentile; Leite, Renata Aparecida; Magliaro, Fernanda Cristina Leite; Gonçalves, Isabela Crivellaro

2006-08-01

We examined the peripheral auditory system and the auditory brainstem pathway of children with Acquired Immunodeficiency Syndrome (AIDS). One hundred and one children, 51 with AIDS diagnosis and 50 normal children were evaluated. Audiological assessment included immittance measures, pure tone and speech audiometry and auditory brainstem response (ABR). The children with AIDS more frequently had abnormal results than did their matched controls, presenting either peripheral or auditory brainstem impairment. We suggest that AIDS be considered a risk factor for peripheral and/or auditory brainstem disorders. Further research should be carried out to investigate the auditory effects of HIV infection along the auditory pathway.

Guidelines for Counselling about HIV Infection and Disease. WHO AIDS Series 8.

ERIC Educational Resources Information Center

World Health Organization, Geneva (Switzerland).

The present guidelines have been prepared to provide counselors, health care workers, and others with a model for use in counseling people affected directly or indirectly by Human Immunodeficiency Virus (HIV) infection and Acquired Immune Deficiency Syndrome (AIDS). The guidelines describe the nature, role, and principles of counseling, the…

Problems in the Workplace: AIDS, Drug Testing, Sexual Harassment, and Smoking Restrictions. LERC Monograph Series No. 7. Second Edition.

ERIC Educational Resources Information Center

Durham, Robert; And Others

This document presents discussions of four problems that may be found in the workplace. "AIDS in the Workplace: Employee Safety and Rights" (Robert Durham and Burton White) explores issues of employee/employer relationship and the issue of Acquired immune deficiency syndrome (AIDS) in the workplace. It concludes that the management of the AIDS…

Deficiency neuropathy in wartime: the "paraesthetic-causalgic syndrome" described by Manuel Peraita during the Spanish Civil War.

PubMed

Huertas, Rafael; Del Cura, Maria Isabel

2010-04-08

This paper discusses the contribution of Spanish neurologist Manuel Peraita (1908-1950) to the study of deficiency neuropathy in the setting of the Spanish Civil War (1936-1939). The clinical characteristics of "paraesthetic-causalgic syndrome" or "Madrid syndrome" as described by Peraita are discussed, and the syndrome is presented in relation to other similar conditions, including Strachan's syndrome and burning feet syndrome.

The Save-Your-Life Glossary of Alcohol, AIDS, Drug, & Tobacco Terms.

ERIC Educational Resources Information Center

Adcock, Deborah

This document presents the Save-Your-Life Glossary, which consists of four parts: (1) the glossary itself, which defines alcohol, Acquired Immune Deficiency Syndrome (AIDS), drug, and tobacco-related terms; (2) the alerts sections, which focus on popular drugs or issues that concern young people; (3) the focus sections, which categorize and…

The Tuskegee Syphilis Study, 1932 to 1972: Implications for HIV Education and AIDS Risk Education Programs in the Black Community.

ERIC Educational Resources Information Center

Thomas, Stephen B.; Quinn, Sandra Crouse

1991-01-01

The Tuskegee study of untreated syphilis in black males caused distrust by blacks of the public health system that has implications for Acquired Immune Deficiency Syndrome (AIDS) and Human Immunodeficiency Virus (HIV) studies. AIDS prevention among blacks may require openness about the Tuskegee study to allay fears of repetition. (SLD)

Magnesium deficiency and metabolic syndrome: stress and inflammation may reflect calcium activation.

PubMed

Rayssiguier, Yves; Libako, Patrycja; Nowacki, Wojciech; Rock, Edmond

2010-06-01

Magnesium (Mg) intake is inadequate in the western diet and metabolic syndrome is highly prevalent in populations around the world. Epidemiological studies suggest that high Mg intake may reduce the risk but the possibility of confounding factors exists, given the strong association between Mg and other beneficial nutriments (vegetables, fibers, cereals). The concept that metabolic syndrome is an inflammatory condition may explain the role of Mg.Mg deficiency results in a stress effect and increased susceptibility to physiological damage produced by stress. Stress activates the hypothalamic-pituitary-adrenal axis (HPA) axis and the sympathetic nervous system. The activation of the renin-angiotensin-aldosterone system is a factor in the development of insulin resistance by increasing oxidative stress. In both humans and rats, aldosteronism results in an immunostimulatory state and leads to an inflammatory phenotype. Stress response induces the release of large quantities of excitatory amino acids and activates the nuclear factor NFkappaB, promoting translation of molecules involved in cell regulation, metabolism and apoptosis. The rise in neuropeptides is also well documented. Stress-induced HPA activation has been identified to play an important role in the preferential body fat accumulation but evidence that Mg is involved in body weight regulation is lacking. One of the earliest events in the acute response to stress is endothelial dysfunction. Endothelial cells actively contribute to inflammation by elaborating cytokines, synthesizing chemical mediators and expressing adhesion molecules. Experimental Mg deficiency in rats induces a clinical inflammatory syndrome characterized by leukocyte and macrophage activation, synthesis of inflammatory cytokines and acute phase proteins, extensive production of free radicals. An increase in extracellular Mg concentration decreases inflammatory effects, while reduction in extracellular Mg results in cell activation. The

[The use of growth hormone to treat endocrine-metabolic disturbances in acquired immunodeficiency syndrome (AIDS) patients].

PubMed

Spinola-Castro, Angela Maria; Siviero-Miachon, Adriana A; da Silva, Marcos Tadeu Nolasco; Guerra-Junior, Gil

2008-07-01

Acquired Immunodeficiency Syndrome (Aids) was initially related to HIV-associated wasting syndrome, and its metabolic disturbances to altered body composition. After Highly Active Antiretroviral Therapy (HAART) was started, malnutrition has declined and HIV-associated lipodystrophy syndrome has emerged as an important metabolic disorder. Aids is also characterized by hormonal disturbances, principally in growth hormone/insulin-like growth factor 1 (GH/IGF-1) axis. The use of recombinant human GH (hrGH) was formerly indicated to treat wasting syndrome, in order to increase lean body mass. Even though the use of hrGH in lipodystrophy syndrome has been considered, the decrease in insulin sensitivity is a limitation for its use, which has not been officially approved yet. Diversity in therapeutic regimen is another limitation to its use in Aids patients. The present study has reviewed the main HIV-related endocrine-metabolic disorders as well as the use of hrGH in such conditions.

Teens in Transition: A Workshop on Teen Sexuality and AIDS for Youth-Serving Professionals.

ERIC Educational Resources Information Center

Deveny, Mary Alice

1993-01-01

Provides excerpts from a presentation at a librarians' continuing education workshop on teen sexuality and AIDS (Acquired Immune Deficiency Syndrome), together with participants questions and comments. Goals of an HIV (Human Immunodeficiency Virus) education program are presented, and activities for librarians are suggested. (EAM)

HIV Education for Persons with Mental Disabilities. AIDS Technical Report, No. 1.

ERIC Educational Resources Information Center

Harvey, David C.; Trivelli, Lucy U.

This technical report is part of a series on AIDS/HIV (Acquired Immune Deficiency Syndrome/Human Immunodeficiency Virus) and is intended to help link various legal advocacy organizations providing services to persons with mental illness or developmental disabilities. Such persons, especially adolescents, are at risk for exposure to HIV because…

Predictive factors for the Nursing Diagnoses in people living with Acquired Immune Deficiency Syndrome 1

PubMed Central

da Silva, Richardson Augusto Rosendo; Costa, Romanniny Hévillyn Silva; Nelson, Ana Raquel Cortês; Duarte, Fernando Hiago da Silva; Prado, Nanete Caroline da Costa; Rodrigues, Eduardo Henrique Fagundes

2016-01-01

Abstract Objective: to identify the predictive factors for the nursing diagnoses in people living with Acquired Immune Deficiency Syndrome. Method: a cross-sectional study, undertaken with 113 people living with AIDS. The data were collected using an interview script and physical examination. Logistic regression was used for the data analysis, considering a level of significance of 10%. Results: the predictive factors identified were: for the nursing diagnosis of knowledge deficit-inadequate following of instructions and verbalization of the problem; for the nursing diagnosis of failure to adhere - years of study, behavior indicative of failure to adhere, participation in the treatment and forgetfulness; for the nursing diagnosis of sexual dysfunction - family income, reduced frequency of sexual practice, perceived deficit in sexual desire, perceived limitations imposed by the disease and altered body function. Conclusion: the predictive factors for these nursing diagnoses involved sociodemographic and clinical characteristics, defining characteristics, and related factors, which must be taken into consideration during the assistance provided by the nurse. PMID:27384466

A Study of Parent-Child Attachments in HIV+/AIDS Minority Families.

ERIC Educational Resources Information Center

Harris, Yvette; And Others

This study examined medical services and support services available to and utilized by minority families where a child and/or parent was identified as having Human Immunodeficiency Virus (HIV) or Acquired Immune Deficiency Syndrome (AIDS). Sixteen caregivers of children (ages 2-4) diagnosed as HIV positive or children who had been exposed to the…

Level of Interactivity of Videodisc Instruction on College Students' Recall of AIDS Information.

ERIC Educational Resources Information Center

Kritch, Kale M.; And Others

1995-01-01

Two experiments confirmed the greater effectiveness of constructed-response interactive videodisc instruction when compared to a click-to-continue or passive viewing formats on posttest recall of Acquired Immune Deficiency Syndrome (AIDS) information by 101 college students. The necessity of constructing answers appears to be an important factor…

New Hampshire Educators' Handbook: A Guide for Developing HIV/AIDS Curriculum and Policy.

ERIC Educational Resources Information Center

New Hampshire State Dept. of Education, Concord.

This handbook was developed to facilitate the task school districts face in developing and implementing effective Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome (HIV/AIDS) curriculum and policy. Organized into five sections, the guide begins with an introduction that includes the New Hampshire State Board of Education HIV/AIDS…

Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency.

PubMed

Naito, E; Ito, M; Yokota, I; Saijo, T; Matsuda, J; Osaka, H; Kimura, S; Kuroda, Y

1997-08-01

We report molecular analysis of thiamin-responsive pyruvate dehydrogenase complex (PDHC) deficiency in a patient with an X-linked form of Leigh syndrome. PDHC activity in cultured lymphoblastoid cells of this patient and his asymptomatic mother were normal in the presence of a high thiamin pyrophosphate (TPP) concentration (0.4 mmol/L). However, in the presence of a low concentration (1 x 10(-4) mmol/L) of TPP, the activity was significantly decreased, indicating that PDHC deficiency in this patient was due to decreased affinity of PDHC for TPP. The patient's older brother also was diagnosed as PDHC deficiency with Leigh syndrome, suggesting that PDHC deficiency in these two brothers was not a de novo mutation. Sequencing of the X-linked PDHC E1 alpha subunit revealed a C-->G point mutation at nucleotide 787, resulting in a substitution of glycine for arginine 263. Restriction enzyme analysis of the E1 alpha gene revealed that the mother was a heterozygote, indicating that thiamin-responsive PDHC deficiency associated with Leigh syndrome due to this mutation is transmitted by X-linked inheritance.

Unified-planning, graded-administration, and centralized-controlling: a management modality for treating acquired immune deficiency syndrome with Chinese medicine in Henan Province of China.

PubMed

Xu, Li-Ran; Guo, Hui-jun; Liu, Zhi-bin; Li, Qiang; Yang, Ji-ping; He, Ying

2015-04-01

Henan Province in China has a major epidemic of human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS). Chinese medicine (CM) has been used throughout the last decade, and a management modality was developed, which can be described by unified-planning, graded-administration, and centralized-controlling (UGC). The UGC modality has one primary concept (patient-centered medicine from CM theory), four basic foundations (classifying administrative region, characteristics of CM on disease treatment, health resource conditions, and distribution of patients living with HIV), six important relationships (the "three uniformities and three combinations," and the six relationships therein guide the treatment of AIDS with CM), and four key sections (management, operation, records, and evaluation). In this article, the authors introduce the UGC modality, which could be beneficial to developing countries or resource-limited areas for the management of chronic infectious disease.

Severe mental deficiency, proportionate dwarfism, and delayed sexual maturation. A distinct inherited syndrome.

PubMed

Cantú, J M; Sánchez-Corona, J; García-Cruz, D; Fragoso, R

1980-01-01

Two 46,XY brothers were found to have a previously undescribed syndrome characterized by severe mental deficiency, proportionate dwarfism, and delayed sexual development. A recessive mode of inheritance, either autosomal or X-linked, is assumed.

GH treatment to final height produces similar height gains in patients with SHOX deficiency and Turner syndrome: results of a multicenter trial.

PubMed

Blum, Werner F; Ross, Judith L; Zimmermann, Alan G; Quigley, Charmian A; Child, Christopher J; Kalifa, Gabriel; Deal, Cheri; Drop, Stenvert L S; Rappold, Gudrun; Cutler, Gordon B

2013-08-01

Growth impairment in short stature homeobox-containing gene (SHOX) deficiency and Turner syndrome share a similar etiology. Because of the established effect of GH treatment on height in patients with Turner syndrome, we hypothesized that GH therapy would also stimulate growth in patients with SHOX deficiency. Our objectives were to evaluate long-term efficacy of GH treatment in short patients with SHOX deficiency and to compare the effect on final (adult) height (FH) in patients with SHOX deficiency and Turner syndrome. A prospective, multinational, open-label, randomized 3-arm study consisting of a 2-year control period and a subsequent extension period to FH. The treatment groups were 1) SHOX-D-C/GH (untreated during the control period, GH-treated during the extension), 2) SHOX-D-GH/GH, and 3) Turner-GH/GH (GH-treated during both study periods). Short-statured prepubertal patients with genetically confirmed SHOX deficiency (n = 49) or Turner syndrome (n = 24) who participated in the extension. Depending on the study arm, patients received a daily sc injection of 0.05 mg/kg recombinant human GH from start of the study or start of the extension until attainment of FH or study closure. Height SD score gain from start of GH treatment to FH was similar between the combined SHOX-deficient groups (n = 28, 1.34 ± 0.18 [least-squares mean ± SE]) and the Turner group (n = 19, 1.32 ± 0.22). In this FH population, 57% of the patients with SHOX deficiency and 32% of the patients with Turner syndrome achieved a FH greater than -2 SD score. GH treatment in short children with SHOX deficiency showed similar long-term efficacy as seen in girls with Turner syndrome.

Dental Space Deficiency Syndrome: An Anthropological Perspective.

PubMed

Richman, Colin S

2017-03-01

A new syndrome in dentistry, the dental space deficiency syndrome is proposed in this article. Signs and symptoms of this entity may include one or more of the following clinical dental features: tooth crowding, gingival recession, tooth impactions, rapid resorption of facial alveolar bony plates following premature tooth loss, dentally oriented sleep disorders, extended orthodontic treatment time, and malocclusion relapse following orthodontic therapy. These oral conditions, individually or collectively, seem to be associated with both genetic and functional factors. From an anthropological-functional perspective, the human jaws (basal bone and/or alveolar bone) have been shrinking. This results in a three-dimensional discrepancy between jawbone and tooth volumes, which are genetically determined. Consequently, the reduced volume of alveolar bone is not adequately able to accommodate the associated genetically determined dentition in functional and esthetic harmony. This paper describes the common etiology for the conditions listed above, namely the discrepancy between alveolar bone volume (essentially determined by functionality), and associated tooth volume (essentially determined by genetics), when considered in a three-dimensional perspective.

Physicians' obligations to patients infected with Ebola: echoes of acquired immune deficiency syndrome.

PubMed

Minkoff, Howard; Ecker, Jeffrey

2015-04-01

Physicians across the United States are engaged in training in the identification, isolation, and initial care of patients with Ebola. Some will be asked to do more. The issue this viewpoint will address is the moral obligation of physicians to participate in these activities. In order to do so the implicit contract between society and its physicians will be considered, as will many of the arguments that are redolent of those that were litigated 30 years ago when acquired immune deficiency syndrome (AIDS) was raising public fears to similar levels, and some physicians were publically proclaiming their unwillingness to render care to those individuals. We will build the case that if steps are taken to reduce risks-optimal personal protective equipment and training-to what is essentially the lowest possible level then rendering care should be seen as obligatory. If not, as in the AIDS era there will be an unfair distribution of risk, with those who take their obligations seriously having to go beyond their fair measure of exposure. It would also potentially undermine patients' faith in the altruism of physicians and thereby degrade the esteem in which our profession is held and the trust that underpins the therapeutic relationship. Finally there is an implicit contract with society. Society gives tremendously to us; we encumber a debt from all society does and offers, a debt for which recompense is rarely sought. The mosaic of moral, historical, and professional imperatives to render care to the infected all echoes the words of medicine's moral leaders in the AIDS epidemic. Arnold Relman perhaps put it most succinctly, "the risk of contracting the patient's disease is one of the risks that is inherent in the profession of medicine. Physicians who are not willing to accept that risk…ought not be in the practice of medicine." Copyright © 2015 Elsevier Inc. All rights reserved.

Creatine Deficiency Syndrome could be Missed Easily: A Case Report of Guanidinoacetate Methyltransferase Deficiency Presented with Neurodevelopmental Delay, Seizures, and Behavioral Changes, but Normal Structural MRI.

PubMed

Pacheva, Iliyana; Ivanov, Ivan; Penkov, Marin; Kancheva, Daliya; Jordanova, Albena; Ivanova, Mariya

2016-09-01

A case with GAMT deficiency (homozygous c.64dupG mutation) presented with neurodevelopmental delay, rare seizures, behavioral disturbances, and mild hypotonia, posing diagnostic challenges. Metabolic investigations showed low creatinine in plasma and urine (guanidinoacetate couldn't be investigated) and slightly elevated lactate. MRI was normal. Correct diagnosis was possible only after MR spectroscopy was performed at age 5½ years. A homozygous c.64dupG mutation of the GAMT gene was identified in the proband. In conclusion, every case with neurodevelopmental delay or arrest, especially when accompanied by seizures, behavioral impairment, muscle hypotonia or extrapyramidal symptoms should undergo MRI with MR spectroscopy. Normal structural MRI doesn't exclude a creatine deficiency syndrome. Biochemical investigations of guanidinoacetate, creatine, and creatinine in body fluid should be done to diagnose cerebral creatine deficiency syndromes and to specify the deficient enzyme. Thus, a treatable disease will not be missed. © 2016 by the Association of Clinical Scientists, Inc.

Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome.

PubMed

Kratz, C P; Holter, S; Etzler, J; Lauten, M; Pollett, A; Niemeyer, C M; Gallinger, S; Wimmer, K

2009-06-01

Biallelic germline mutations in the mismatch repair genes MLH1, MSH2, MSH6 or PMS2 cause a recessive childhood cancer syndrome characterised by early-onset malignancies and signs reminiscent of neurofibromatosis type 1 (NF1). Alluding to the underlying genetic defect, we refer to this syndrome as constitutional mismatch repair-deficiency (CMMR-D) syndrome. The tumour spectrum of CMMR-D syndrome includes haematological neoplasias, brain tumours and Lynch syndrome-associated tumours. Other tumours, such as neuroblastoma, Wilm tumour, ovarian neuroectodermal tumour or infantile myofibromatosis, have so far been found only in individual cases. We analysed two consanguineous families that had members with suspected CMMR-D syndrome who developed rhabdomyosarcoma among other neoplasias. In the first family, we identified a pathogenic PMS2 mutation for which the affected patient was homozygous. In family 2, immunohistochemistry analysis showed isolated loss of PMS2 expression in all tumours in the affected patients, including rhabdomyosarcoma itself and the surrounding normal tissue. Together with the family history and microsatellite instability observed in one tumour this strongly suggests an underlying PMS2 alteration in family 2 also. Together, these two new cases show that rhabdomyosarcoma and possibly other embryonic tumours, such as neuroblastoma and Wilm tumour, belong to the tumour spectrum of CMMR-D syndrome. Given the clinical overlap of CMMR-D syndrome with NF1, we suggest careful examination of the family history in patients with embryonic tumours and signs of NF1 as well as analysis of the tumours for loss of one of the mismatch repair genes and microsatellite instability. Subsequent mutation analysis will lead to a definitive diagnosis of the underlying disorder.

Studies of Genetic Variation in the AIDS Virus: Relevance to Disease Pathogenesis, Anti-Viral Therapy, and Vaccine Development

DTIC Science & Technology

1990-06-15

lymphotropic retrovirus from a patient at risk for acquired immune deficiency syndrome (AIDS). Science 220:868-870. 4. Berkelman, R.L., W.L. Heyward...J.K. Stehr-Green and J.W. Curran. 1989. Epidemiology of human immunodeficiency virus infection and acquired immunodeficiency syndrome . Amer. J. of Med...cytopathicity. In: Acquired Immunodeficiency Syndrome . Eds. J.C. Gluckman and E. Vilmer. (Elsevier) pp. 47- 56. 26. Henderson, L.E., R.C. Sowder, T.D

Considerations for Reaching the Latino Population with Sexuality and HIV/AIDS Information and Education.

ERIC Educational Resources Information Center

de la Vega, Ernesto

1990-01-01

Latino and Latina sexual attitudes and behaviors must be understood if educators and counselors hope to reach this population with effective sexuality and Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome (HIV/AIDS) information and education. The general U.S. Latino population is mostly sexually conservative; direct talk in public…

Women and AIDS: introduction.

PubMed

Krieger, N; Margo, G

1991-01-01

Around the world, more and more women--principally poor women of color--are being diagnosed with and are dying of AIDS, the acquired immune deficiency syndrome. Yet, effective and appropriate prevention programs for women are sorely missing from the global program to control AIDS. To help us understand why this gap exists, and what we must do to close it, the three articles in this issue focus on women and AIDS. Examining the situation in such countries as Zimbabwe and South Africa, as well as in other economically underdeveloped and developed regions, the authors argue that women with the least control over their bodies and their lives are at greatest risk of acquiring AIDS. For example, the high rate of infection among women in Africa cannot be understood apart from the legacy of colonialism (including land expropriation and the forced introduction of a migrant labor system) and the insidious combination of traditional and European patriarchal values. Only by recognizing the socioeconomic and cultural determinants of both disease and sexual behavior, and only by incorporating these insights into our AIDS prevention programs, will we be able to curb the spread of this lethal disease.

The present and the future of AIDS and tuberculosis in Illinois.

PubMed Central

Coté, T R; Nelson, M R; Anderson, S P; Martin, R J

1990-01-01

The relation between the acquired immune deficiency syndrome (AIDS) and tuberculosis (TB) was examined by matching the Illinois AIDS and TB registries. The match group was examined and compared with patients with only one disease by race, method of human immunodeficiency virus (HIV) transmission, site of tuberculous disease, radiographic findings, and results of Mantoux tests. The time of TB diagnosis was centrally distributed around the time of AIDS diagnosis; from this, it was determined that 4.1 percent of AIDS patients develop active TB. Projections for future AIDS cases were made by fitting a polynomial model to historical data. These projections were then used to predict the future impact of AIDS-related TB upon state TB rates. The rise in TB rates call for special efforts to minimize this impact. PMID:2368856

Issues in the Development of Undergraduate Courses on the Psychosocial Implications of AIDS.

ERIC Educational Resources Information Center

Heyman, Steven R.

This paper discusses the issues that should be addressed in an undergraduate course dealing with the psychosocial implications of AIDS (Acquired Immune Deficiency Syndrome). These issues are: (1) the medical aspects of HIV infection and transmission; (2) death and dying versus life and living; (3) homosexuality; (4) intravenous drug use; (5)…

AIDS and Sjogren's syndrome.

PubMed

Talal, N

1991-01-01

HIV infection can produce a clinical syndrome and immunologic changes similar to those seen in SS. HIV infection can occasionally result in an SS-like disease but without the formation of antibodies to Ro(SS-A) or La(SS-B). Could this mean that a retrovirus yet to be discovered is responsible for the autoimmune exocrinopathy known as SS? Evidence to date is circumstantial, based on antibodies to a retroviral protein (p24). The idea that retroviruses act in a genetically susceptible host to cause SS is a reasonable hypothesis. Syphilis and Lyme disease are both models where infectious organisms cause chronic multi-system disease. The virus of SS need not be a foreign invader but could be an endogenous retrovirus contained within our own genetic material (10, 11). More investigation is needed to exploit the research opportunities that have appeared in clinical immunology since the AIDS epidemic first appeared.

Hearing aid fitting for visual and hearing impaired patients with Usher syndrome type IIa.

PubMed

Hartel, B P; Agterberg, M J H; Snik, A F; Kunst, H P M; van Opstal, A J; Bosman, A J; Pennings, R J E

2017-08-01

Usher syndrome is the leading cause of hereditary deaf-blindness. Most patients with Usher syndrome type IIa start using hearing aids from a young age. A serious complaint refers to interference between sound localisation abilities and adaptive sound processing (compression), as present in today's hearing aids. The aim of this study was to investigate the effect of advanced signal processing on binaural hearing, including sound localisation. In this prospective study, patients were fitted with hearing aids with a nonlinear (compression) and linear amplification programs. Data logging was used to objectively evaluate the use of either program. Performance was evaluated with a speech-in-noise test, a sound localisation test and two questionnaires focussing on self-reported benefit. Data logging confirmed that the reported use of hearing aids was high. The linear program was used significantly more often (average use: 77%) than the nonlinear program (average use: 17%). The results for speech intelligibility in noise and sound localisation did not show a significant difference between type of amplification. However, the self-reported outcomes showed higher scores on 'ease of communication' and overall benefit, and significant lower scores on disability for the new hearing aids when compared to their previous hearing aids with compression amplification. Patients with Usher syndrome type IIa prefer a linear amplification over nonlinear amplification when fitted with novel hearing aids. Apart from a significantly higher logged use, no difference in speech in noise and sound localisation was observed between linear and nonlinear amplification with the currently used tests. Further research is needed to evaluate the reasons behind the preference for the linear settings. © 2016 The Authors. Clinical Otolaryngology Published by John Wiley & Sons Ltd.

[The role of inositol deficiency in the etiology of polycystic ovary syndrome disorders].

PubMed

Jakimiuk, Artur J; Szamatowicz, Jacek

2014-01-01

Inositol acts as a second messenger in insulin signaling pathway Literature data suggest inositol deficiency in insulin-resistant women with the polycystic ovary syndrome. Supplementation of myo-inisitol decreases insulin resistance as it works as an insulin sensitizing agent. The positive role of myo-inositol in the treatment of polycystic ovary syndrome has been of increased evidence recently The present review presents the effects of myo-inositol on the ovarian, hormonal and metabolic parameters in women with PCOS.

Assessing Riverside Community College Nursing Student Attitudes toward Exposure to AIDS/HIV-Positive Patients.

ERIC Educational Resources Information Center

Kross, Carolyn Sue

In fall 1990, a study was conducted to assess the attitudes of nursing students who were attending Riverside Community College (RCC), in California, toward exposure to Acquired Immune Deficiency Syndrome/Human Immunodeficiency Virus (AIDS/HIV) positive patients in a hospital setting. All students enrolled in RCC's associate degree nursing program…

GLUT1 deficiency syndrome in clinical practice.

PubMed

Klepper, Joerg

2012-07-01

GLUT1 deficiency syndrome (GLUT1DS) is caused by impaired glucose transport into brain and is effectively treated by means of a ketogenic diet. In clinical practice the diagnosis of GLUT1DS often is challenging due to the increasing complexity of symptoms, diagnostic cut-offs for hypoglycorrhachia and genetic heterogeneity. In terms of treatment alternative ketogenic diets and their long-term side effects as well as novel compounds such as alpha-lipoic acid and triheptanoin have raised a variety of issues. The current diagnostic and therapeutic approach to GLUT1DS is discussed in this review in view of these recent developments. Copyright © 2011. Published by Elsevier B.V.

Partial restoration of impaired interleukin-2 production and Tac antigen (putative interleukin-2 receptor) expression in patients with acquired immune deficiency syndrome by isoprinosine treatment in vitro.

PubMed Central

Tsang, K Y; Fudenberg, H H; Galbraith, G M; Donnelly, R P; Bishop, L R; Koopmann, W R

1985-01-01

The in vitro effects of isoprinosine (ISO) on interleukin-2 (IL-2) production, the expression of Tac antigen (IL-2 receptor) on lymphocytes, and the ability of Leu 3(+) cells to absorb interleukin-1 (IL-1) were investigated in 10 patients with acquired immune deficiency syndrome (AIDS). In 9 of the 10 patients, production of IL-2 from mononuclear cells and Leu 3(+) cells was depressed; expression of Tac antigen on mononuclear cells and Leu 2(+) cells was found to be depressed in 9 of 10 patients. The ability of the Leu 3(+) lymphocytes to absorb IL-1 was depressed in all (four of four) patients studied. After ISO treatment, IL-2 production, Tac antigen expression and IL-1 absorption were restored to normal or near normal levels in most of the patients. These results suggest that ISO has an immunostimulating capacity in AIDS patients and that the potential of ISO in immune response restoration in AIDS patients deserves critical consideration. PMID:2581997

Children with HIV/AIDS: A Sourcebook for Caring. A Guide for Establishing Programs for Children.

ERIC Educational Resources Information Center

Allbritten, Dorothy J.

This manual is intended for administrators and professional caregivers who wish to provide comprehensive health care to children with Human Immunodeficiency Virus (HIV) infection, the cause of Acquired Immune Deficiency Syndrome (AIDS). Chapter 1, an overview, examines the societal and economic issues that affect care and treatment of children…

Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.

PubMed

Vurallı, Doğuş; Gönç, Nazlı; Vidaud, Dominique; Özön, Alev; Alikaşifoğlu, Ayfer; Kandemir, Nurgün

2016-03-05

Neurofibromatosis-Noonan syndrome (NFNS) is a distinct entity which shows the features of both NF1 (neurofibromatosis 1) and Noonan syndrome (NS). While growth hormone deficiency (GHD) has been relatively frequently identified in NF1 and NS patients, there is limited experience in NFNS cases. The literature includes only one case report of a NFNS patient having GHD and that report primarily focuses on the dermatological lesions that accompany the syndrome and not on growth hormone (GH) treatment. Here, we present a 13-year-old girl who had clinical features of NFNS with a mutation in the NF1 gene. The case is the first NFNS patient reported in the literature who was diagnosed to have GHD and who received GH treatment until reaching final height. The findings in this patient show that short stature is a feature of NFNS and can be caused by GHD. Patients with NFNS who show poor growth should be evaluated for GHD.

AIDS/HIV-Related Knowledge, Attitudes, and Risk Behavior. Minnesota Student Survey Report, 1989.

ERIC Educational Resources Information Center

Minnesota State Dept. of Education, St. Paul.

The Minnesota Student Survey, including questions on Acquired Immune Deficiency Syndrome (AIDS) virus transmission and sexual activity, was completed by approximately 88,000 6th-, 9th-, and 12th-graders during the 1988-89 school year. Sexual activity questions were not asked of sixth graders. Over 90% of high school students knew about sharing…

Vitamin D deficiency is prevalent in girls and women with rett syndrome

USDA-ARS?s Scientific Manuscript database

The aim of the study was to determine the prevalence of vitamin D deficiency and identify the relation between 25-hydroxyvitamin D (25-(OH)D) levels and the consumption of dietary sources of vitamin D or exposure to anticonvulsants in girls and women with Rett syndrome (RTT). Retrospective review of...

[Leigh syndrome and leukodystrophy due to partial succinate dehydrogenase deficiency: regression with riboflavin].

PubMed

Pinard, J M; Marsac, C; Barkaoui, E; Desguerre, I; Birch-Machin, M; Reinert, P; Ponsot, G

1999-04-01

Succinate dehydrogenase (SDH) deficiency is rare. Clinical manifestations can appear in infancy with a marked impairment of psychomotor development with pyramidal signs and extrapyramidal rigidity. A 10-month-old boy developed severe neurological features, evoking a Leigh syndrome; magnetic resonance imaging showed features of leukodystrophy. A deficiency in the complex II respiratory chain (succinate dehydrogenase [SDH]) was shown. The course was remarkable by the regression of neurological impairment under treatment by riboflavin. The delay of psychomotor development, mainly involving language, was moderate at the age of 5 years. The relatively good prognosis of this patient, despite severe initial neurological impairment, may be due to the partial enzyme deficiency and/or riboflavin administration.

Hyperphagia and Obesity in Prader⁻Willi Syndrome: PCSK1 Deficiency and Beyond?

PubMed

Ramos-Molina, Bruno; Molina-Vega, María; Fernández-García, José C; Creemers, John W

2018-06-07

Prader⁻Willi syndrome (PWS) is a complex genetic disorder that, besides cognitive impairments, is characterized by hyperphagia, obesity, hypogonadism, and growth impairment. Proprotein convertase subtilisin/kexin type 1 ( PCSK1 ) deficiency, a rare recessive congenital disorder, partially overlaps phenotypically with PWS, but both genetic disorders show clear dissimilarities as well. The recent observation that PCSK1 is downregulated in a model of human PWS suggests that overlapping pathways are affected. In this review we will not only discuss the mechanisms by which PWS and PCSK1 deficiency could lead to hyperphagia but also the therapeutic interventions to treat obesity in both genetic disorders.

[Construction and analysis of questionnaires on AIDS cough in traditional Chinese medicine diagnosis and treatment procedures].

PubMed

Zhang, Ying; Xue, Liu-Hua; Chen, Yu-Xia; Huang, Shi-Jing; Pan, Ju-Hua; Wang, Jie

2013-08-01

To norm the behavior of AIDS cough in traditional Chinese medicine diagnosis and treatment and improve the clinical level of cough treatment for HIV/AIDS, and build AIDS cough diagnosis and treatment procedures in traditional Chinese medicine. Combined with clinical practice,to formulate questionnaire on AIDS cough in traditional Chinese medicine diagnosis and treatment by both English and Chinese literature research to expertise consultation and verify the results of the questionnaires on the statistics using the Delphi method. Questionnaire contents consist of overview, pathogeny, diagnosis standard, dialectical medication (phlegm heat resistance pulmonary lung and kidney Yin deficiency lung spleen-deficiency), treating spleen-deficiency (lung), moxibustion treatment and aftercare care and diet and mental, average (2.93-3.00), full mark rate (93.10%-100%) ranks average (9.91-10.67) and (287.50-309.50) of which are the most high value, and the variation coefficient is 0.00, the Kendall coefficient (Kendalls W) is 0.049 which is statistical significance, the questionnaire reliability value of alpha was 0.788. Preliminary standarded concept, etiology and pathogenesis, diagnosis and syndrome differentiation treatment of AIDS cough, basically recognised by the experts in this field, and laid the foundation of traditional Chinese medicine diagnosis and treatment on develop the AIDS cough specifications.

Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism

PubMed Central

Ilias, Chatziioannidis; Evgenia, Babatseva; Aikaterini, Patsatsi; Asimina, Galli-Tsinopoulou; Constantina, Sarri; Maria, Lithoxopoulou; George, Mitsiakos; Paraskevi, Karagianni; Christos, Tsakalidis; Zissis, Mamuris; Nikolaos, Nikolaidis

2015-01-01

Netherton syndrome, a rare autosomal recessive genetic disorder, is classified as an ichthyosiform syndrome. In this report we present the case of a neonate with erythroderma shortly after birth, accompanied by severe hypernatremia, recurrent infections, transient hyperaldosteronism, and signs of growth hormone (GH) deficiency. DNA molecular analysis in the SPINK5 gene revealed heterozygosity in our index patient for 238insG and 2468delA frameshift mutations in exons 4 and 26, respectively, in the maternal allele and 1431-12G>A splice-site mutation in intron 15 in the paternal allele as well as the missense variation E420K in homozygous state. Combination of the identified mutations along with transient hyperaldosteronism and possible GH deficiency have not been described before. Accordingly, the importance of early multidisciplinary approach is highlighted, in order to reach accurate diagnosis, initiate prompt treatment, and ensure survival with fewer disease complications. PMID:26229701

Refeeding syndrome in a young woman with argininosuccinate lyase deficiency.

PubMed

Stuy, M; Chen, G-F; Masonek, J M; Scharschmidt, B F

2015-09-01

A severely chronically protein and calorie restricted young woman with argininosuccinate lyase deficiency developed transient refeeding syndrome (RFS) and hyperammonemia after modest diet liberalization following initiation of glycerol phenylbutyrate (GPB). The patient required IV supportive care and supplementation with potassium, magnesium and calcium. She is now doing well on GPB and an appropriate maintenance diet. Susceptibility to RFS should be considered in chronically nutritionally restricted patients with metabolic disorders after liberalization of diet.

HIV/AIDS Infected Mothers' Experience of a Group Intervention to Enhance Their Children's Behavior

ERIC Educational Resources Information Center

Eloff, Irma; Finestone, Michelle; Forsyth, Brian

2016-01-01

A secondary study was conducted within a broader National Institutes of Health (NIH)-funded longitudinal study on resilience in South African mothers and children affected by HIV/AIDS (Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome). The aim of this study was to evaluate the effect of a 24-week support group intervention…

A Disease Called AIDS. For Grades 5 through 7. Instructor's Guide and Student Guide.

ERIC Educational Resources Information Center

Hubbard, Betty M.

The introductory section of the first of two related guides provides information that describes and assists in teaching a curriculum on HIV (human immunodeficiency virus) and AIDS (acquired immune deficiency syndrome). The introduction discusses the scope of the problem and includes an overview of the curriculum, a review of teaching strategies,…

Sex, AIDS, and the Use of Condoms: A Survey of Compliance in College Students.

ERIC Educational Resources Information Center

Oswalt, Robert; Matsen, Krista

The potential for an increase in the transmission of Acquired Immune Deficiency Syndrome (AIDS) exists because the practice of sexual intercourse among unmarried individuals has increased in all age groups. Nonetheless, an earlier study in 1984 had found that the sexual activity and minimal condom use of college students had not changed…

Continuing Jeopardy: Children and AIDS. A Staff Report of the Select Committee on Children, Youth, and Families. One Hundredth Congress, Second Session.

ERIC Educational Resources Information Center

Congress of the U.S., Washington, DC. House Select Committee on Children, Youth, and Families.

The challenges to Congress posed by the threat of Acquired Immune Deficiency Syndrome (AIDS) to children are to support the development of more humane and cost-effective treatment and care, and to stop the spread of the Human Immunodeficiency Virus (HIV). The rate of reported HIV infection and cases of AIDS among children and youth is increasing.…

[Relationship between vitamin D deficiency and metabolic syndrome in adult population of the Community of Madrid].

PubMed

Gradillas-García, Antonio; Álvarez, Julia; Rubio, José Antonio; de Abajo, Francisco J

2015-04-01

Previous studies have suggested an association between MS and vitamin D deficiency, but data are not conclusive. This study was intended to find out if metabolic syndrome, according to the 2009 IDF/AHA/NHLBI, is associated to the presence of vitamin D deficiency. A cross-sectional study was conducted on a sample of 326 subjects aged 18 years or older, recruited from a health center in Alcalá de Henares. Participants underwent an interview and a standardized clinical examination. In a second visit, blood tests were performed in 255 subjects to quantify serum levels of 25-hydroxyvitamin D (25 OH-VitD) and different laboratory parameters associated to MS. The association between vitamin D deficiency and metabolic syndrome (and each of its components) was examined. In the study population, MS prevalence was 36.1% and prevalence of vitamin D deficiency (25 OH-Vit D<20 ng/mL) was 56.3%. MS was more common in the group of patients with vitamin D deficiency (43.4%) than in the group with no deficiency (26.8%, P=.006), with an estimated prevalence ratio of 1.62 (95% CI: 1.13-2.31). Adjustment for age, sex, and body mass index did not change such association. There is a significant association between vitamin D deficiency and MS. Both conditions are highly prevalent in our population. Copyright © 2014 SEEN. Published by Elsevier España, S.L.U. All rights reserved.

Condom Advertising and AIDS. Hearing before the Subcommittee on Health and the Environment of the Committee on Energy and Commerce. House of Representatives, One Hundredth Congress, First Session.

ERIC Educational Resources Information Center

Congress of the U.S., Washington, DC. House Committee on Energy and Commerce.

This document present witnesses' testimonies from the Congressional hearing called to examine condom advertising and Acquired Immune Deficiency Syndrome (AIDS). Opening statements are included by Congressmen Henry Waxman, William Dannemeyer, and Jim Bates. C. Everett Koop, United States Surgeon General, and Gary Noble, AIDS coordinator for the…

Sanfilippo Syndrome: Profound Deficiency of Alpha-Acetylglucosaminidase Activity in Organs and Skin Fibroblasts from Type-B Patients

PubMed Central

O'brien, John S.

1972-01-01

Cultured skin fibroblasts from two patients with Sanfilippo syndrome, Type B were strikingly deficient in α-acetylglucosaminidase activity (α-2-acetamido-2-deoxy-D-glucoside acetamidodeoxyglucohydrolase, EC 3.2.1.X). A similar deficiency was found in frozen organs from two other patients. A partial deficiency of α-acetylglucosaminidase was found in cultured skin fibroblasts from both parents of one patient. Soluble endogenous inhibitors did not account for the enzyme deficiency. Other lysosomal hydrolases were normal or increased in cultured fibroblasts from patients with this disease. No deficiency of α-acetylglucosaminidase is present in other genetic mucopolysaccharidoses, including Sanfilippo Type A. PMID:4261742

LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.

PubMed

Debray, François-Guillaume; Morin, Charles; Janvier, Annie; Villeneuve, Josée; Maranda, Bruno; Laframboise, Rachel; Lacroix, Jacques; Decarie, Jean-Claude; Robitaille, Yves; Lambert, Marie; Robinson, Brian H; Mitchell, Grant A

2011-03-01

The natural history of all known patients with French-Canadian Leigh disease (Saguenay-Lac-St-Jean cytochrome c oxidase deficiency, MIM220111, SLSJ-COX), the largest known cohort of patients with a genetically homogeneous, nuclear encoded congenital lactic acidosis, was studied. 55 of 56 patients were homozygous for the A354V mutation in LRPPRC. One was a genetic compound (A354V/C1277Xdel8). Clinical features included developmental delay, failure to thrive, characteristic facial appearance and, in 90% of patients, acute crises that have not previously been detailed, either metabolic (fulminant lactic acidosis) and/or neurological (Leigh syndrome and/or stroke-like episodes). Survival ranged from 5 days to >30 years. 46/56 patients (82%) died, at a median age of 1.6 years. Of 73 crises, 38 (52%) were fatal. The immediate causes of death were multiple organ failure and/or Leigh disease. Major predictors of mortality during crises (p<0.005) were hyperglycaemia, hepatic cytolysis, and altered consciousness at admission. Compared to a group of SURF1-deficient Leigh syndrome patients assembled from the literature, SLSJ-COX is distinct by the occurrence of metabolic crises, leading to earlier and higher mortality (p=0.001). SLSJ-COX is clinically distinct, with acute fatal acidotic crises on a backdrop of chronic moderate developmental delay and hyperlactataemia. Leigh syndrome is common. Stroke-like episodes can occur. The Leigh syndrome of SLSJ-COX differs from that of SURF1-related COX deficiency. SLSJ-COX has a different spectrum of associated abnormalities, acidotic crises being particularly suggestive of LRPPRC related Leigh syndrome. Even among A354V homozygotes, pronounced differences in survival and severity occur, showing that other genetic and/or environmental factors can influence outcome.

Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.

PubMed

Comeaux, Matthew S; Wang, Jing; Wang, Guoli; Kleppe, Soledad; Zhang, Victor Wei; Schmitt, Eric S; Craigen, William J; Renaud, Deborah; Sun, Qin; Wong, Lee-Jun

2013-07-01

Cerebral creatine deficiency syndromes (CCDS) are a group of inborn errors of creatine metabolism that involve AGAT and GAMT for creatine biosynthesis disorders and SLC6A8 for creatine transporter (CT1) deficiency. Deficiencies in the three enzymes can be distinguished by intermediate metabolite levels, and a definitive diagnosis relies on the presence of deleterious mutations in the causative genes. Mutations and unclassified variants were identified in 41 unrelated patients, and 22 of these mutations were novel. Correlation of sequencing and biochemical data reveals that using plasma guanidinoacetate (GAA) as a biomarker has 100% specificity for both AGAT and GAMT deficiencies, but AGAT deficiency has decreased sensitivity in this assay. Furthermore, the urine creatine:creatinine ratio is an effective screening test with 100% specificity in males suspected of having creatine transporter deficiency. This test has a high false-positive rate due to dietary factors or dilute urine samples and lacks sensitivity in females. We conclude that biochemical screening for plasma GAA and measuring of the urine creatine:creatinine ratio should be performed for suspected CCDS patients prior to sequencing. Also, based on the results of this study, we feel that sequencing should only be considered if a patient has abnormal biochemical results on repeat testing. Copyright © 2013 Elsevier Inc. All rights reserved.

Thyroid hormone levels in the acquired immunodeficiency syndrome (AIDS) or AIDS-related complex.

PubMed Central

Tang, W W; Kaptein, E M

1989-01-01

Hypothalamic-pituitary dysfunction and thyroid gland cytomegalovirus inclusions have been described in patients with the acquired immunodeficiency syndrome (AIDS) and AIDS-related complex (ARC). We evaluated 80 patients with AIDS or ARC for the frequency of hypothalamic-pituitary or thyroid gland failure and altered serum thyroid hormone levels due to nonthyroidal disorders. One patient had subclinical hypothyroidism. Of these patients, 60% had low free triiodothyronine (T3) index values and 4% had low free thyroxine (T4) indexes; none of the latter had hypothalamic-pituitary or thyroid gland failure, since all serum cortisol values were greater than or equal to 552 nmol per liter (greater than or equal to 20 micrograms per dl) and all thyrotropin levels were less than or equal to 3 mU per liter (less than or equal to 3 microU per ml), respectively. Those who died had lower total T4 and T3, free T3 index, and albumin levels than those discharged from hospital. Serum total T4 and T3 levels correlated with albumin levels and total T3 with serum sodium levels. Serum total T3 levels best predicted the outcome of the hospital stay (accuracy = 82%). Thus, abnormal serum thyroid hormone levels in AIDS or ARC patients are most frequently due to nonthyroidal disorders, but hypothalamic-pituitary or thyroid gland failure may occur. PMID:2618039

Facial dysmorphism in Leigh syndrome with SURF-1 mutation and COX deficiency.

PubMed

Yüksel, Adnan; Seven, Mehmet; Cetincelik, Umran; Yeşil, Gözde; Köksal, Vedat

2006-06-01

Leigh syndrome is an inherited, progressive neurodegenerative disorder of infancy and childhood. Mutations in the nuclear SURF-1 gene are specifically associated with cytochrome C oxidase-deficient Leigh syndrome. This report describes two patients with similar facial features. One of them was a 2(1/2)-year-old male, and the other was a 3-year-old male with a mutation in SURF-1 gene and facial dysmorphism including frontal bossing, brachycephaly, hypertrichosis, lateral displacement of inner canthi, esotropia, maxillary hypoplasia, hypertrophic gums, irregularly placed teeth, upturned nostril, low-set big ears, and retrognathi. The first patient's magnetic resonance imaging at 15 months of age indicated mild symmetric T2 prolongation involving the subthalamic nuclei. His second magnetic resonance imaging at 2 years old revealed a symmetric T2 prolongation involving the subthalamic nuclei, substantia nigra, and medulla lesions. In the second child, at the age of 2 the first magnetic resonance imaging documented heavy brainstem and subthalamic nuclei involvement. A second magnetic resonance imaging, performed when he was 3 years old, revealed diffuse involvement of the substantia nigra and hyperintense lesions of the central tegmental tract in addition to previous lesions. Facial dysmorphism and magnetic resonance imaging findings, observed in these cases, can be specific findings in Leigh syndrome patients with cytochrome C oxidase deficiency. SURF-1 gene mutations must be particularly reviewed in such patients.

A patient with Bartter syndrome accompanying severe growth hormone deficiency and focal segmental glomerulosclerosis.

PubMed

Akil, Ipek; Ozen, Serkan; Kandiloglu, Ali Riza; Ersoy, Betul

2010-06-01

Bartter syndrome is a rare autosomal recessive, salt-losing disorder characterized by hypokalemic hypochloremic metabolic alkalosis. A 10-year-old boy had severe growth retardation (height standard deviation score -8.15). He had a thin, triangular face, prominent ears and forehead, and big eyes. Megacystis, bilateral hydroureteronephrosis, and residual urine were detected in ultrasonography, but there was no vesicoureteral reflux. Lumbosacral magnetic resonance (MR) showed posterior disc bulging at L4-5. Serum sodium and chloride levels were normal, but mild hypokalemia was overlooked initially. During follow-up, hypokalemic hypochloremic metabolic alkalosis developed, with high urinary chloride and potassium excretion (52 and 43 mEq/L, respectively). The patient, with renal salt loss, was thought to have classic Bartter syndrome due to absence of nephrocalcinosis, presence of persistent hypercalciuria and sensorineural deafness, and presence of relatively mild clinical and laboratory findings, except polyuria initially. The child was treated with indomethacin, spironolactone, and oral potassium in addition to growth hormone (GH). During treatment, he had considerable increase in weight and height compared with the period of GH therapy only. We present this case because, although growth retardation is a major feature of Bartter syndrome, associated GH deficiency is rarely reported in the literature. Diagnosis of Bartter syndrome was made later, as our patient was followed for megacystis and megaureter secondary to the neurogenic bladder and GH deficiency initially; and proteinuria associated with focal segmental glomerulosclerosis responded to treatment for Bartter syndrome.

Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.

PubMed

Balasubramaniam, S; Riley, L G; Bratkovic, D; Ketteridge, D; Manton, N; Cowley, M J; Gayevskiy, V; Roscioli, T; Mohamed, M; Gardeitchik, T; Morava, E; Christodoulou, J

2017-09-01

Clinical finding of cutis laxa, characterized by wrinkled, redundant, sagging, nonelastic skin, is of growing significance due to its occurrence in several different inborn errors of metabolism (IEM). Metabolic cutis laxa results from Menkes syndrome, caused by a defect in the ATPase copper transporting alpha (ATP7A) gene; congenital disorders of glycosylation due to mutations in subunit 7 of the component of oligomeric Golgi (COG7)-congenital disorders of glycosylation (CDG) complex; combined disorder of N- and O-linked glycosylation, due to mutations in ATPase H+ transporting V0 subunit a2 (ATP6VOA2) gene; pyrroline-5-carboxylate reductase 1 deficiency; pyrroline-5-carboxylate synthase deficiency; macrocephaly, alopecia, cutis laxa, and scoliosis (MACS) syndrome, due to Ras and Rab interactor 2 (RIN2) mutations; transaldolase deficiency caused by mutations in the transaldolase 1 (TALDO1) gene; Gerodermia osteodysplastica due to mutations in the golgin, RAB6-interacting (GORAB or SCYL1BP1) gene; and mitogen-activated pathway (MAP) kinase defects, caused by mutations in several genes [protein tyrosine phosphatase, non-receptor-type 11 (PTPN11), RAF, NF, HRas proto-oncogene, GTPase (HRAS), B-Raf proto-oncogene, serine/threonine kinase (BRAF), MEK1/2, KRAS proto-oncogene, GTPase (KRAS), SOS Ras/Rho guanine nucleotide exchange factor 2 (SOS2), leucine rich repeat scaffold protein (SHOC2), NRAS proto-oncogene, GTPase (NRAS), and Raf-1 proto-oncogene, serine/threonine kinase (RAF1)], which regulate the Ras-MAPK cascade. Here, we further expand the list of inborn errors of metabolism associated with cutis laxa by describing the clinical presentation of a 17-month-old girl with Leigh-like syndrome due to enoyl coenzyme A hydratase, short chain, 1, mitochondria (ECHS1) deficiency, a mitochondrial matrix enzyme that catalyzes the second step of the beta-oxidation spiral of fatty acids and plays an important role in amino acid catabolism, particularly valine.

PDH E1β deficiency with novel mutations in two patients with Leigh syndrome.

PubMed

Quintana, E; Mayr, J A; García Silva, M T; Font, A; Tortoledo, M A; Moliner, S; Ozaez, L; Lluch, M; Cabello, A; Ricoy, J R; Koch, J; Ribes, A; Sperl, W; Briones, P

2009-12-01

Most cases of pyruvate dehydrogenase complex (PDHc) deficiency are attributable to mutations in the PDHA1 gene which encodes the E(1)α subunit, with few cases of mutations in the genes for E(3), E3BP (E(3) binding protein), E(2) and E(1)-phosphatase being reported. Only seven patients with deficiency of the E(1)β subunit have been described, with mutations in the PDHB gene in six of them. Clinically they presented with a non-specific encephalomyopathy. We report two patients with new mutations in PDHB and Leigh syndrome. Patient 1 was a boy with neonatal onset of hyperlactataemia, corpus callosum hypoplasia and a convulsive encephalopathy. After neurological deterioration, he died at age 5 months. Autopsy revealed the characteristic features of Leigh syndrome. Patient 2, also a boy, presented a milder clinical course. First symptoms were noticed at age 16 months with muscular hypotonia, lactic acidosis and recurrent episodes of somnolence and transient tetraparesis. MRI revealed bilateral signal hyperintensities in the globus pallidus, midbrain and crura cerebri. PDHc and E(1) activities were deficient in fibroblasts in patient 1; in patient 2 PDHc deficiency was found in skeletal muscle. Mutations in PDHA1 were excluded. Sequencing of PDHB revealed a homozygous point mutation (c.302T>C), causing a predicted amino acid change (p.M101T) in patient 1. Patient 2 is compound heterozygote for mutations c.301A>G (p.M101V) and c.313G>A (p.R105Q). All three mutations appear to destabilize the E(1) enzyme with a decrease of both E(1)α and E(1)β subunits in immunoblot analysis. To our knowledge, these patients with novel PDHB mutations are the first reported with Leigh syndrome.

Vitamin D deficiency contributes directly to the acute respiratory distress syndrome (ARDS).

PubMed

Dancer, Rachel C A; Parekh, Dhruv; Lax, Sian; D'Souza, Vijay; Zheng, Shengxing; Bassford, Chris R; Park, Daniel; Bartis, D G; Mahida, Rahul; Turner, Alice M; Sapey, Elizabeth; Wei, Wenbin; Naidu, Babu; Stewart, Paul M; Fraser, William D; Christopher, Kenneth B; Cooper, Mark S; Gao, Fang; Sansom, David M; Martineau, Adrian R; Perkins, Gavin D; Thickett, David R

2015-07-01

Vitamin D deficiency has been implicated as a pathogenic factor in sepsis and intensive therapy unit mortality but has not been assessed as a risk factor for acute respiratory distress syndrome (ARDS). Causality of these associations has never been demonstrated. To determine if ARDS is associated with vitamin D deficiency in a clinical setting and to determine if vitamin D deficiency in experimental models of ARDS influences its severity. Human, murine and in vitro primary alveolar epithelial cell work were included in this study. Vitamin D deficiency (plasma 25(OH)D levels <50 nmol/L) was ubiquitous in patients with ARDS and present in the vast majority of patients at risk of developing ARDS following oesophagectomy. In a murine model of intratracheal lipopolysaccharide challenge, dietary-induced vitamin D deficiency resulted in exaggerated alveolar inflammation, epithelial damage and hypoxia. In vitro, vitamin D has trophic effects on primary human alveolar epithelial cells affecting >600 genes. In a clinical setting, pharmacological repletion of vitamin D prior to oesophagectomy reduced the observed changes of in vivo measurements of alveolar capillary damage seen in deficient patients. Vitamin D deficiency is common in people who develop ARDS. This deficiency of vitamin D appears to contribute to the development of the condition, and approaches to correct vitamin D deficiency in patients at risk of ARDS should be developed. UKCRN ID 11994. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

HIV Liability & Disability Services Providers: An Introduction to Tort Principles. AIDS Technical Report, No. 2.

ERIC Educational Resources Information Center

Harvey, David C.; Decker, Curtis L.

This technical report is part of a series on AIDS/HIV (Acquired Immune Deficiency Syndrome/Human Immunodeficiency Virus) and is intended to help link various legal advocacy organizations providing services to persons with mental illness or developmental disabilities. This report focuses on liability issues from worker and client exposure to HIV.…

Responding to HIV and AIDS. A Training Manual for United States Probation Officers. Participant's Edition.

ERIC Educational Resources Information Center

Tyree, Jimmy L.

This training manual provides U.S. Probation Officers with a useful guide in understanding the dynamics of human immunodeficiency virus (HIV) and acquired immune deficiency syndrome (AIDS). It also gives advice on making this information specific and appropriate to the offenders with whom they work on their caseloads. The manual contains six core…

Recent trends in the treatment of testosterone deficiency syndrome.

PubMed

Hong, Bum Sik; Ahn, Tai Young

2007-11-01

Testosterone deficiency syndrome (TDS) is defined as a clinical and biochemical syndrome associated with advancing age and is characterized by typical symptoms and deficiency in serum testosterone levels. TDS is a result of the interaction of hypothalamo-pituitary and testicular factors. Now, treatment of TDS with testosterone is still controversial due to a lack of large, controlled clinical trials on efficacy. The risks of treatment with testosterone appear to be minimal, although long-term studies on the safety of testosterone therapy are lacking. The aim of the therapy is to establish a physiological concentration of serum testosterone in order to correct the androgen deficiency, relieve its symptoms and prevent long-term sequelae. All of the available products, despite their varying pharmacodynamic and pharmacokinetic profiles, are able to reach this goal. Newer testosterone patches seem not to cause severe skin irritation. Testosterone gels minimize the skin irritation while providing flexibility in dosing and a low discontinuation rate. Oral testosterone undecanoate (TU) is free of liver toxicity. Recent formulation of oral TU markedly increased shelf-live, a major drawback in the older preparation. Producing swings in testosterone levels rising rapidly to the supraphysiological range is not the case with the new injectable long-acting preparation of TU. To be able to rapidly react and stop treatment in cases where side-effects and contraindications are detected, the short-acting transdermal and oral delivery modes have certain advantages. However, there is no evidence that the use of an injectable long-acting TU in men with TDS has limitations in clinical application for this reason. The use of dehydroepiandrosterone is still controversial because of a lack of well designed long-term trials, although some recent studies suggest positive effects on various body systems. Only a few studies have been carried out to investigate the effect of hCG (human

Budd-Chiari Syndrome Due to Protein C Deficiency: A Rare Disorder to cause Chronic Liver Disease.

PubMed

Begum, Rukshana; Mahtab, Mamun Al; Mamun, Ayub Al; Moben, Ahmed Lutful; Hossain, Sharker Mohammad Shahadat; Das, Dulal Chandra; Malakar, Debraj; Or Rashid, Harun; Roy, Partho Protim; Rahman, Salimur

2016-01-01

The Budd-Chiari syndrome (BCS) is a rare disorder due to chronic liver disease (CLD), which is caused by the obstruction of hepatic venous outflow that can be located at any place from the small hepatic venules up to the entrance of the inferior vena cava (IVC) into the right atrium. Among the causes of BCS, the rarer one is coagulation factor deficiencies. Here, we report a case of BCS associated with deficiency of protein C resulting in thrombus in IVC. The patient was a 50-year-old male, who had been suffering from recurrent abdominal and leg swelling for a long period of 7 years. He was evaluated thoroughly, and other causes of liver cirrhosis were excluded. Begum R, Al Mahtab M, Al Mamun A, Moben AL, Hossain SMS, Das DC, Malakar D, Rashid HO, Roy PP, Rahman S. Budd-Chiari Syndrome Due to Protein C Deficiency: A Rare Disorder to cause Chronic Liver Disease. Euroasian J Hepato-Gastroenterol 2016;6(2):194-197.

Building Coalitions To Provide HIV Legal Advocacy Services: Utilizing Existing Disability Models. AIDS Technical Report, No. 5.

ERIC Educational Resources Information Center

Harvey, David C.; Ardinger, Robert S.

This technical report is part of a series on AIDS/HIV (Acquired Immune Deficiency Syndrome/Human Immunodeficiency Virus) and is intended to help link various legal advocacy organizations providing services to persons with mental illness or developmental disabilities. This report discusses strategies to utilize existing disability models for…

Leigh Syndrome with Nephropathy and CoQ10 Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations

PubMed Central

López, Luis Carlos ; Schuelke, Markus ; Quinzii, Catarina M. ; Kanki, Tomotake ; Rodenburg, Richard J. T. ; Naini, Ali ; DiMauro, Salvatore ; Hirano, Michio 

2006-01-01

Coenzyme Q10 (CoQ10) is a vital lipophilic molecule that transfers electrons from mitochondrial respiratory chain complexes I and II to complex III. Deficiency of CoQ10 has been associated with diverse clinical phenotypes, but, in most patients, the molecular cause is unknown. The first defect in a CoQ10 biosynthetic gene, COQ2, was identified in a child with encephalomyopathy and nephrotic syndrome and in a younger sibling with only nephropathy. Here, we describe an infant with severe Leigh syndrome, nephrotic syndrome, and CoQ10 deficiency in muscle and fibroblasts and compound heterozygous mutations in the PDSS2 gene, which encodes a subunit of decaprenyl diphosphate synthase, the first enzyme of the CoQ10 biosynthetic pathway. Biochemical assays with radiolabeled substrates indicated a severe defect in decaprenyl diphosphate synthase in the patient’s fibroblasts. This is the first description of pathogenic mutations in PDSS2 and confirms the molecular and clinical heterogeneity of primary CoQ10 deficiency. PMID:17186472

Autonomous role of Wiskott-Aldrich syndrome platelet deficiency in inducing autoimmunity and inflammation.

PubMed

Sereni, Lucia; Castiello, Maria Carmina; Marangoni, Francesco; Anselmo, Achille; di Silvestre, Dario; Motta, Sara; Draghici, Elena; Mantero, Stefano; Thrasher, Adrian J; Giliani, Silvia; Aiuti, Alessandro; Mauri, Pierluigi; Notarangelo, Luigi D; Bosticardo, Marita; Villa, Anna

2018-02-06

Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency characterized by eczema, infections, and susceptibility to autoimmunity and malignancies. Thrombocytopenia is a constant finding, but its pathogenesis remains elusive. To dissect the basis of the WAS platelet defect, we used a novel conditional mouse model (CoWas) lacking Wiskott-Aldrich syndrome protein (WASp) only in the megakaryocytic lineage in the presence of a normal immunologic environment, and in parallel we analyzed samples obtained from patients with WAS. Phenotypic and functional characterization of megakaryocytes and platelets in mutant CoWas mice and patients with WAS with and without autoantibodies was performed. Platelet antigen expression was examined through a protein expression profile and cluster proteomic interaction network. Platelet immunogenicity was tested by using ELISAs and B-cell and platelet cocultures. CoWas mice showed increased megakaryocyte numbers and normal thrombopoiesis in vitro, but WASp-deficient platelets had short lifespan and high expression of activation markers. Proteomic analysis identified signatures compatible with defects in cytoskeletal reorganization and metabolism yet surprisingly increased antigen-processing capabilities. In addition, WASp-deficient platelets expressed high levels of surface and soluble CD40 ligand and were capable of inducing B-cell activation in vitro. WASp-deficient platelets were highly immunostimulatory in mice and triggered the generation of antibodies specific for WASp-deficient platelets, even in the context of a normal immune system. Patients with WAS also showed platelet hyperactivation and increased plasma soluble CD40 ligand levels correlating with the presence of autoantibodies. Overall, these findings suggest that intrinsic defects in WASp-deficient platelets decrease their lifespan and dysregulate immune responses, corroborating the role of platelets as modulators of inflammation and immunity. Copyright © 2018 American

Pathogenicity of missense mutations in SURF1 deficiency inducing the Leigh syndrome. Importance in diagnosis.

PubMed

Dubot, A; Hervouet, E; Mandon, G; Zabot, M T; Godinot, C

2004-06-01

Leigh syndrome with cytochrome oxidase (COX) deficiency has been associated with SURF1 mutations. For patient diagnosis, distinction between neutral polymorphisms and pathogenic missense SURF1 mutations in Leigh syndrome is essential. We show that several missense SURF1 mutations did not allow a stable protein to be expressed. Absence of immunologically reactive SURF1 is, therefore, helpful to demonstrate their pathogenicity. In addition, we show that out of two previously described missense mutations housed by the same allele, only one, the T737 C was pathogenic. Indeed, transfection of T737 C mutated SURF1 in SURF1-deficient cells did not restore normal SURF1 stability and COX activity. On the contrary, the G604 C-mutated SURF1 did it and, hence, is a neutral variant.

Software for Teaching about AIDS & Sex: A Critical Review of Products. A MicroSIFT Report.

ERIC Educational Resources Information Center

Weaver, Dave

This document contains critical reviews of 10 microcomputer software packages and two interactive videodisc products designed for use in teaching about Acquired Immune Deficiency Syndrome (AIDS) and sex at the secondary school level and above. Each package was reviewed by one or two secondary school health teachers and by a staff member from the…

Devising Effective Strategies To Promote AIDS Awareness and Understanding among the Employees and Clients of a Shelter for Runaway and Troubled Youth Ages Twelve through Fourteen Years.

ERIC Educational Resources Information Center

Jennings, Susan

Runaways are rapidly becoming one of the highest at risk populations for contracting and spreading the Acquired Immune Deficiency Syndrome (AIDS) virus. This practicum was therefore designed to provide an AIDS policy and awareness training for the employees of a state-licensed and federally recognized center for troubled and runaway youth. Its…

The Language Arts Link: A Sourcebook for HIV/AIDS Education in the English Classroom, Grades 11-12.

ERIC Educational Resources Information Center

LaBonte, Karen

Since exploration of thoughts, feelings, attitudes, opinions, and beliefs about Acquired Immune Deficiency Syndrome (AIDS) is crucial to teenagers' ability to develop healthy attitudes and behaviors, and since the language arts classroom is a natural arena for such exploration, this sourcebook presents ideas on how to bring this kind of discussion…

Constitutional mismatch repair-deficiency syndrome presenting as colonic adenomatous polyposis: clues from the skin.

PubMed

Jasperson, K W; Samowitz, W S; Burt, R W

2011-10-01

Constitutional mismatch repair-deficiency (CMMR-D) syndrome is an autosomal recessive condition characterized by hematologic malignancies, brain tumors, Lynch syndrome-associated cancers and skin manifestations reminiscent of neurofibromatosis type 1 (NF1). In contrast to Lynch syndrome, CMMR-D syndrome is exceptionally rare, onset typically occurs in infancy or early childhood and, as described in this report, may also present with colonic polyposis suggestive of attenuated familial adenomatous polyposis (AFAP) or MUTYH associated polyposis (MAP). Here we describe two sisters with CMMR-D syndrome due to germline bi-allelic MSH6 mutations. Both sisters are without cancer, are older than typical for this condition, have NF1 associated features and a colonic phenotype suspicious for an attenuated polyposis syndrome. This report highlights the role of skin examinations in leading to an underlying genetic diagnosis in individuals with colonic adenomatous polyposis, but without mutations associated with AFAP or MAP. © 2010 John Wiley & Sons A/S.

[Changes of acquired immune deficiency syndrome related knowledge, attitudes, behaviors and their influencing factors among college students in Beijing].

PubMed

2017-06-18

To compare acquired immune deficiency syndrome (AIDS) related knowledge, attitudes, behaviors and their influencing factors among college students in different years in Beijing, and to provide evidence for targeted health education among college students in future. College students were selected by the stratified cluster sampling method, and a questionnaire survey was conducted among college students in year 2006 and 2016 in Beijing. The sample sizes were 1 800 and 3 001 college students, respectively. The contents of the questionnaire included: socio-demographic characteristics, AIDS related knowledge, AIDS related attitude, sex intercourse and its related risk behaviors, condom use intension, and AIDS related health education. Compared with the year 2006, the average AIDS knowledge scores of college students in year 2016 dropped from 12.78±1.95 to 11.90±2.56 (t=12.91, P<0.05), and the correct answer rates of questions in the knowledge part were decreased, too. Except for belief on condom use, the college students were more negative on AIDS related attitude and self-efficacy in year 2016 than in year 2006. Among the students who had sex experience, the rates of commercial sex [17.65% (33/187) vs. 6.53% (16/245), χ 2 =13.003, P<0.001] and the rates of homo-sexual intercourse [15.43% (29/188) vs. 4.13% (10/242), χ 2 =16.356, P<0.001] were higher in year 2016 than in year 2006. The main way for the students seeking pornographic information was changed from books to internet (41.15%) in 2016 compared with the year 2016. In 2016, the influencing factors of intention on condom use were male (OR=0.713), self-efficacy of condom purchase (OR=0.876), never received sex education before college (OR=0.752), self-efficacy of condom use (OR=1.135), belief of condom use (OR=1.775), and attitude towards AIDS patients (OR=1.136). AIDS related knowledge, attitudes and behaviors among college students have been changed, AIDS related health education should be designed and

A Milk-Free Diet Downregulates Folate Receptor Autoimmunity in Cerebral Folate Deficiency Syndrome

ERIC Educational Resources Information Center

Ramaekers, Vincent T.; Sequeira, Jeffrey M.; Blau, Nenad; Quadros, Edward V.

2008-01-01

In cerebral folate deficiency syndrome, the presence of autoantibodies against the folate receptor (FR) explains decreased folate transport to the central nervous system and the clinical response to folinic acid. Autoantibody crossreactivity with milk FR from different species prompted us to test the effect of a milk-free diet. Intervention with a…

[Therapeutic efficacy of modified zigui decoction in treatment of polycystic ovary syndrome of gan-shen yin deficiency syndrome].

PubMed

Li, Xiao-ping; Lin, Shu; Ye, Shuang

2011-08-01

To study the therapeutic efficacy of Modified Zigui Decoction (MZD) in treatment of polycystic ovary syndrome of Gan-Shen yin deficiency syndrome. 66 polycystic ovary syndrome patients of Gan-Shen yin deficiency syndrome were randomly assigned to the MZD group (Group A) and the Westem medicine group (Group B), 33 patients in each. Patients in Group A orally took MZD, while those in Group B orally took Diane-35. Their menstrual cycle rate, basal body temperature (BBT), the ovarian size, the number of follicles, and changes of endocrine hormones were observed before treatment, the first menstrual cycle, and the sixth menstrual cycle after treatment. (1) The normal rate of one menstrual cycle after stopping taking medicine was 57.58% in Group A and 63.64% in Group B. There was no statistical difference between the two groups (P>0.05). The normal rate of six menstrual cycles after stopping taking medicine was 45. 45% in Group A and 21.21% in Group B. The former was superior to the latter, showing statistical difference (P<0.05). (2) The biphasic BBT rates of one menstrual cycle after stopping taking medicine were somewhat elevated in the two groups, better than before treatment respectively (P<0.01). But there was no statistical difference between the two groups (P>0.05). The biphasic BBT rate of six menstrual cycles after stopping taking medicine was 45.45% in Group A and 18.18% in Group B. The former was superior to the latter, showing statistical difference (P<0.05). (3) The bilateral ovarian volume of one menstrual cycle after stopping taking medicine was obviously reduced in both groups (P<0.01). The bilateral ovarian volume of six menstrual cycles after stopping taking medicine was still more reduced than before treatment in Group A (P<0.01), while it returned to the size of before treatment in Group B (P>0.05). (4) The number of follicles of one menstrual cycle after stopping taking medicine was obviously reduced in both groups (P<0.01). The number of follicles

The Syndrome of 17,20 Lyase Deficiency

PubMed Central

2012-01-01

Context: Disorders of steroidogenesis have been instrumental in delineating human steroidogenic pathways. Each genetic disorder seemed to correspond to a different steroidogenic activity, helping to identify several enzymes. Beginning in 1972, several patients have been reported as having “17,20 lyase deficiency,” but there have been inconsistent genetic findings. Objective: This manuscript reviews the biochemistry, genetics, and clinical disorders of 17,20 lyase activity, which converts 21-carbon precursors of glucocorticoids to 19-carbon precursors of sex steroids. Findings: A single enzyme, cytochrome P450c17, catalyzes both 17α-hydroxylase activity and 17,20 lyase activity. The 17,20 lyase activity is especially sensitive to the activities of the accessory proteins P450 oxidoreductase and cytochrome b5. The first cases of genetically and biochemically proven 17,20 lyase deficiency were reported in 1997, in which specific P450c17 mutations were identified that lost 17,20 lyase activity but not 17α-hydroxylase activity when assayed in vitro. Subsequent work identified other P450c17 mutations and mutations in the genes encoding P450 oxidoreductase and cytochrome b5. Recently, the initially reported cases from 1972 were found to carry mutations in two aldo-keto reductases, AKR1C2 and AKR1C4. These AKR1C isozymes catalyze 3α-hydroxysteroid dehydrogenase activity in the so-called “backdoor pathway” by which the fetal testis produces dihydrotestosterone without the intermediacy of testosterone. Conclusions: 17,20 Lyase deficiency should be considered a syndrome with multiple causes, and not a single disease. Study of this very rare disorder has substantially advanced our understanding of the pathways, mechanisms, and control of androgen synthesis. Mutations in other, as-yet unidentified genes may also cause this phenotype. PMID:22072737

Diet Treatment Glucose Transporter Type 1 Deficiency (G1D)

ClinicalTrials.gov

2018-06-20

GLUT1DS1; Epilepsy; Glut1 Deficiency Syndrome 1, Autosomal Recessive; Glucose Metabolism Disorders; Glucose Transport Defect; Glucose Transporter Type 1 Deficiency Syndrome; Glucose Transporter Protein Type 1 Deficiency Syndrome

A Canonical Correlation Analysis of AIDS Restriction Genes and Metabolic Pathways Identifies Purine Metabolism as a Key Cooperator.

PubMed

Ye, Hanhui; Yuan, Jinjin; Wang, Zhengwu; Huang, Aiqiong; Liu, Xiaolong; Han, Xiao; Chen, Yahong

2016-01-01

Human immunodeficiency virus causes a severe disease in humans, referred to as immune deficiency syndrome. Studies on the interaction between host genetic factors and the virus have revealed dozens of genes that impact diverse processes in the AIDS disease. To resolve more genetic factors related to AIDS, a canonical correlation analysis was used to determine the correlation between AIDS restriction and metabolic pathway gene expression. The results show that HIV-1 postentry cellular viral cofactors from AIDS restriction genes are coexpressed in human transcriptome microarray datasets. Further, the purine metabolism pathway comprises novel host factors that are coexpressed with AIDS restriction genes. Using a canonical correlation analysis for expression is a reliable approach to exploring the mechanism underlying AIDS.

A model for HIV/AIDS pandemic with optimal control

NASA Astrophysics Data System (ADS)

Sule, Amiru; Abdullah, Farah Aini

2015-05-01

Human immunodeficiency virus and acquired immune deficiency syndrome (HIV/AIDS) is pandemic. It has affected nearly 60 million people since the detection of the disease in 1981 to date. In this paper basic deterministic HIV/AIDS model with mass action incidence function are developed. Stability analysis is carried out. And the disease free equilibrium of the basic model was found to be locally asymptotically stable whenever the threshold parameter (RO) value is less than one, and unstable otherwise. The model is extended by introducing two optimal control strategies namely, CD4 counts and treatment for the infective using optimal control theory. Numerical simulation was carried out in order to illustrate the analytic results.

Neonatal liver failure and Leigh syndrome possibly due to CoQ-responsive OXPHOS deficiency.

PubMed

Leshinsky-Silver, E; Levine, A; Nissenkorn, A; Barash, V; Perach, M; Buzhaker, E; Shahmurov, M; Polak-Charcon, S; Lev, D; Lerman-Sagie, T

2003-08-01

CoQ transfers electrons from complexes I and II of the mitochondrial respiratory chain to complex III. There are very few reports on human CoQ deficiency. The clinical presentation is usually characterized by: epilepsy, muscle weakness, ataxia, cerebellar atrophy, migraine, myogloblinuria and developmental delay. We describe a patient who presented with neonatal liver and pancreatic insufficiency, tyrosinemia and hyperammonemia and later developed sensorineural hearing loss and Leigh syndrome. Liver biopsy revealed markedly reduced complex I+III and II+III. Addition of CoQ to the liver homogenate restored the activities, suggesting CoQ depletion. Histological staining showed prominent bridging; septal fibrosis and widening of portal spaces with prominent mixed inflammatory infiltrate, associated with interface hepatitis, bile duct proliferation with numerous bile plugs. Electron microscopy revealed a large number of mitochondria, which were altered in shape and size, widened and disordered intercristal spaces. This may be the first case of Leigh syndrome with liver and pancreas insufficiency, possibly caused by CoQ responsive oxphos deficiency.

The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.

PubMed

Nesbitt, Victoria; Morrison, Patrick J; Crushell, Ellen; Donnelly, Deirdre E; Alston, Charlotte L; He, Langping; McFarland, Robert; Taylor, Robert W

2012-06-01

Mitochondrial respiratory chain diseases represent one of the most common inherited neurometabolic disorders of childhood, affecting a minimum of 1 in 7500 live births. The marked clinical, biochemical, and genetic heterogeneity means that accurate genetic counselling relies heavily upon the identification of the underlying causative mutation in the individual and determination of carrier status in the parents. Isolated complex I deficiency is the most common respiratory chain defect observed in children, resulting in organ-specific or multisystem disease, but most often presenting as Leigh syndrome, for which mitochondrial DNA mutations are important causes. Several recurrent, pathogenic point mutations in the MTND3 gene - including m.10191T>C (p.Ser45Pro) - have been previously identified. In this short clinical review we evaluate the case reports of the m.10191T>C mutation causing complex I-deficient Leigh syndrome described in the literature, in addition to two new ones diagnosed in our laboratory. Both of these appear to have arisen de novo without transmission of the mutation from mother to offspring, illustrating the importance not only of fully characterizing the mitochondrial genome as part of the investigation of children with complex I-deficient Leigh syndrome but also of assessing maternal samples to provide crucial genetic advice for families. © The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.

[A correlation study between diarrhea-predominant irritable bowel syndrome complicated functional dyspepsia patients of Gan-stagnation Pi-deficiency syndrome and gastrointestinal hormones].

PubMed

Zhao, Liang; Song, Wen; Zhu, Ping; Zhang, Yu; Bu, Ping

2014-10-01

To investigate the correlation between the pathogeneses of diarrhea-pre- dominant irritable bowel syndrome (D-IBS) complicated functional dyspepsia (FD) patients of Gan-stagnation Pi-deficiency Syndrome (GSPDS) and symptoms, psychological states, and gastrointestinal hormones. A total of 111 patients with confirmed D-IBS complicated FD of GSPDS were recruited as the treated group by using Rome III standard and Chinese medical syndrome standard. And 30 healthy volunteers were recruited as the control group. The general condition, scoring for digestive symptoms, and the distribution of GSPDS subtype of all subjects were recorded by a questionnaire, and assessed by Symptom Checklist (SCL-90; a software for psychological test developed by Beijing Huicheng Adult Cor- poration). Meanwhile, plasma levels of 5-hydroxytryptamine (5-HT), somatostatin (SS), vasoactive intestinal peptide (VIP), endothelin (ET), interleukin 10 (IL-10), and interleukin 12 (IL-12) were measured in all subjects. (1) The subtype of D-IBS complicated FD of GSPDS was dominant in Pi-qi deficiency type (51/111,45.9%),Pi yang deficiency type (34/111,30.6%), and GSPDS. There was no statistical difference in the scoring of digestive symptoms among the 3 subtypes (P >0.05). (2) Compared with the control group, the anxiety factor score and the total score significantly increased in all three subtypes of D-IBS complicated FD of GSPDS, and the depression score of Pi yang deficiency type and Gan-depression type also significantly increased (P <0.05, P <0.01); the depression score of Gan-depression type was significantly higher than that of the Pi-qi deficiency type (P <0.01). Plasma 5-HT levels were obviously lower in D-IBS complicated FD patients of GSPDS accompanied with anxiety or depression than in those with no obvious psychological abnormalities, and VIP and IL-10 levels were significantly lower than those in the control group (P <0.05). Plasma VIP levels were also obviously lower in D-IBS complicated FD

Development of Guidelines Related to Riverside Community College Nursing Student Mandatory Assignment to AIDS Patients in the Clinical Setting.

ERIC Educational Resources Information Center

Kross, Carolyn Sue

The purpose of this study was to develop Associate Degree nursing program guidelines for Riverside Community College (RCC), in California, regarding mandatory nursing student assignment to Acquired Immune Deficiency Syndrome (AIDS) patients, and student refusal of such assignments in a clinical setting. During the 1990 fall semester, RCC's Nursing…

Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency

PubMed Central

2013-01-01

Background 22q13 deletion syndrome, also known as Phelan-McDermid syndrome, is a neurodevelopmental disorder characterized by intellectual disability, hypotonia, delayed or absent speech, and autistic features. SHANK3 has been identified as the critical gene in the neurological and behavioral aspects of this syndrome. The phenotype of SHANK3 deficiency has been described primarily from case studies, with limited evaluation of behavioral and cognitive deficits. The present study used a prospective design and inter-disciplinary clinical evaluations to assess patients with SHANK3 deficiency, with the goal of providing a comprehensive picture of the medical and behavioral profile of the syndrome. Methods A serially ascertained sample of patients with SHANK3 deficiency (n = 32) was evaluated by a team of child psychiatrists, neurologists, clinical geneticists, molecular geneticists and psychologists. Patients were evaluated for autism spectrum disorder using the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule-G. Results Thirty participants with 22q13.3 deletions ranging in size from 101 kb to 8.45 Mb and two participants with de novo SHANK3 mutations were included. The sample was characterized by high rates of autism spectrum disorder: 27 (84%) met criteria for autism spectrum disorder and 24 (75%) for autistic disorder. Most patients (77%) exhibited severe to profound intellectual disability and only five (19%) used some words spontaneously to communicate. Dysmorphic features, hypotonia, gait disturbance, recurring upper respiratory tract infections, gastroesophageal reflux and seizures were also common. Analysis of genotype-phenotype correlations indicated that larger deletions were associated with increased levels of dysmorphic features, medical comorbidities and social communication impairments related to autism. Analyses of individuals with small deletions or point mutations identified features related to SHANK3 haploinsufficiency

Relationship Between Health Literacy, Knowledge of Health Status, and Beliefs about HIV/AIDS Transmission among Ryan White Clients in Miami

ERIC Educational Resources Information Center

Mooss, Angela; Brock-Getz, Petra; Ladner, Robert; Fiano, Theresa

2013-01-01

Objective: The aim of this study was to examine the relationships between health literacy, knowledge of health status, and human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS) transmission beliefs among recipients of Ryan White care. Design: Quota and convenience sampled, quantitative analysis captured with closed and…

Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.

PubMed

Stephen, Joshi; Vilboux, Thierry; Mian, Luhe; Kuptanon, Chulaluck; Sinclair, Courtney M; Yildirimli, Deniz; Maynard, Dawn M; Bryant, Joy; Fischer, Roxanne; Vemulapalli, Meghana; Mullikin, James C; Huizing, Marjan; Gahl, William A; Malicdan, May Christine V; Gunay-Aygun, Meral

2017-04-01

Joubert syndrome and related disorders (JSRD) are a heterogeneous group of ciliopathies defined based on the mid-hindbrain abnormalities that result in the characteristic "molar tooth sign" on brain imaging. The core clinical findings of JSRD are hypotonia, developmental delay, abnormal eye movements and breathing abnormalities. To date, more than 30 JSRD genes that encode proteins important for structure and/or function of cilia have been identified. Here, we present 2 siblings with Joubert syndrome associated with growth hormone deficiency. Whole exome sequencing of the family identified compound heterozygous mutations in KIAA0753, i.e., a missense mutation (p.Arg257Gly) and an intronic mutation (c.2359-1G>C). The intronic mutation alters normal splicing by activating a cryptic acceptor splice site in exon 16. The novel acceptor site skips nine nucleotides, deleting three amino acids from the protein coding frame. KIAA0753 (OFIP) is a centrosome and pericentriolar satellite protein, previously not known to cause Joubert syndrome. We present comprehensive clinical descriptions of the Joubert syndrome patients as well as the cellular phenotype of defective ciliogenesis in the patients' fibroblasts.

Glucose Transporter Type 1 Deficiency Syndrome with Carbohydrate-Responsive Symptoms but without Epilepsy

ERIC Educational Resources Information Center

Koy, Anne; Assmann, Birgit; Klepper, Joerg; Mayatepek, Ertan

2011-01-01

Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is caused by a defect in glucose transport across the blood-brain barrier. The main symptoms are epilepsy, developmental delay, movement disorders, and deceleration of head circumference. A ketogenic diet has been shown to be effective in controlling epilepsy in GLUT1-DS. We report a female…

A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency.

PubMed

Bogdanović, Radovan; Draaken, Markus; Toromanović, Alma; Dordević, Maja; Stajić, Natasa; Ludwig, Michael

2010-11-01

Dent disease is an X-linked recessive disorder affecting the proximal tubule and is characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis/nephrolithiasis with a variable number of features of Fanconi syndrome. It is most often associated with mutations in CLCN5, which encodes the endosomal electrogenic chloride/proton exchanger ClC-5. Renal acidification abnormalities are only rarely seen in Dent disease, whereas the hypokalemic metabolic alkalosis associated with hyperreninemic hyperaldosteronism (Bartter-like syndrome) has been reported in only one patient so far. We report on a 5-year-old boy with Dent disease caused by mutation in CLCN5 gene, c.1073G>A, who presented with hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism persisting over the entire follow-up. No mutations were found in NKCC2, ROMK, NCCT, or ClC-Kb genes. In addition, the patient exhibited growth failure associated with partial growth hormone (GH) deficiency. Coexistence of Bartter-like syndrome features with LMWP should prompt a clinician to search for Dent disease. The Bartter syndrome phenotype seen in Dent disease patients may represent a distinct form of Bartter syndrome, the exact mechanism of which has yet to be fully elucidated. Growth delay that persists in spite of appropriate therapy should raise suspicion of other causes, such as GH deficiency.

Using the Baidu Search Index to Predict the Incidence of HIV/AIDS in China.

PubMed

He, Guangye; Chen, Yunsong; Chen, Buwei; Wang, Hao; Shen, Li; Liu, Liu; Suolang, Deji; Zhang, Boyang; Ju, Guodong; Zhang, Liangliang; Du, Sijia; Jiang, Xiangxue; Pan, Yu; Min, Zuntao

2018-06-13

Based on a panel of 30 provinces and a timeframe from January 2009 to December 2013, we estimate the association between monthly human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS) incidence and the relevant Internet search query volumes in Baidu, the most widely used search engine among the Chinese. The pooled mean group (PMG) model show that the Baidu search index (BSI) positively predicts the increase in HIV/AIDS incidence, with a 1% increase in BSI associated with a 2.1% increase in HIV/AIDS incidence on average. This study proposes a promising method to estimate and forecast the incidence of HIV/AIDS, a type of infectious disease that is culturally sensitive and highly unevenly distributed in China; the method can be taken as a complement to a traditional HIV/AIDS surveillance system.

AIDS and Young Children: Emerging Issues. Hearing before the Select Committee on Children, Youth, and Families. House of Representatives, One Hundredth Congress, First Session. Hearing Held in Berkeley, California.

ERIC Educational Resources Information Center

Congress of the U.S., Washington, DC. House Select Committee on Children, Youth, and Families.

This field hearing in Berkeley, California examined: (1) the increasing incidence of babies born with, or at risk of contracting, Acquired Immune Deficiency Syndrome (AIDS); (2) the ability of health and social service systems to care for AIDS-infected infants and children and their families; and (3) prevention efforts to reduce the spread of…

Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.

PubMed

Hermanns, Pia; Unger, Sheila; Rossi, Antonio; Perez-Aytes, Antonio; Cortina, Hector; Bonafé, Luisa; Boccone, Loredana; Setzu, Valeria; Dutoit, Michel; Sangiorgi, Luca; Pecora, Fabio; Reicherter, Kerstin; Nishimura, Gen; Spranger, Jürgen; Zabel, Bernhard; Superti-Furga, Andrea

2008-06-01

Deficiency of carbohydrate sulfotransferase 3 (CHST3; also known as chondroitin-6-sulfotransferase) has been reported in a single kindred so far and in association with a phenotype of severe chondrodysplasia with progressive spinal involvement. We report eight CHST3 mutations in six unrelated individuals who presented at birth with congenital joint dislocations. These patients had been given a diagnosis of either Larsen syndrome (three individuals) or humero-spinal dysostosis (three individuals), and their clinical features included congenital dislocation of the knees, elbow joint dysplasia with subluxation and limited extension, hip dysplasia or dislocation, clubfoot, short stature, and kyphoscoliosis developing in late childhood. Analysis of chondroitin sulfate proteoglycans in dermal fibroblasts showed markedly decreased 6-O-sulfation but enhanced 4-O-sulfation, confirming functional impairment of CHST3 and distinguishing them from diastrophic dysplasia sulphate transporter (DTDST)-deficient cells. These observations provide a molecular basis for recessive Larsen syndrome and indicate that recessive Larsen syndrome, humero-spinal dysostosis, and spondyloepiphyseal dysplasia Omani type form a phenotypic spectrum.

Development and Implementation of an AIDS Prevention Program for African-American Women at a Child Care Center.

ERIC Educational Resources Information Center

Moten-Tolson, Paula

This program was designed to provide Acquired Immune Deficiency Syndrome (AIDS) prevention education for African-American women of child bearing age at a child care center which serves low income high risk families. The primary goal was to reduce the risk of African-American women at the child care center for contracting the Human Immunodeficiency…

Reconstruction of a Situational Theory of Communication: Internal and External Concepts as Identifiers of Publics for AIDS.

ERIC Educational Resources Information Center

Grunig, James E.; Childers, Linda

A study by James E. Grunig and his students at the University of Maryland tested a refined version of Grunig's situational theory of communication behavior (1968) by surveying the attitudes of the public regarding Acquired Immune Deficiency Syndrome (AIDS). In preparation for the study, 20 years of research conducted by Grunig and his students was…

Decision aids that support decisions about prenatal testing for Down syndrome: an environmental scan.

PubMed

Leiva Portocarrero, Maria Esther; Garvelink, Mirjam M; Becerra Perez, Maria Margarita; Giguère, Anik; Robitaille, Hubert; Wilson, Brenda J; Rousseau, François; Légaré, France

2015-09-24

Prenatal screening tests for Down syndrome (DS) are routine in many developed countries and new tests are rapidly becoming available. Decisions about prenatal screening are increasingly complex with each successive test, and pregnant women need information about risks and benefits as well as clarity about their values. Decision aids (DAs) can help healthcare providers support women in this decision. Using an environmental scan, we aimed to identify publicly available DAs focusing on prenatal screening/diagnosis for Down syndrome that provide effective support for decision making. Data sources searched were the Decision Aids Library Inventory (DALI) of the Ottawa Patient Decision Aids Research Group at the Ottawa Health Research Institute; Google searches on the internet; professional organizations, academic institutions and other experts in the field; and references in existing systematic reviews on DAs. Eligible DAs targeted pregnant women, focused on prenatal screening and/or diagnosis, applied to tests for fetal abnormalities or aneuploidies, and were in French, English, Spanish or Portuguese. Pairs of reviewers independently identified eligible DAs and extracted characteristics including the presence of practical decision support tools and features to aid comprehension. They then performed quality assessment using the 16 minimum standards established by the International Patient Decision Aids Standards (IPDASi v4.0). Of 543 potentially eligible DAs (512 in DALI, 27 from experts, and four on the internet), 23 were eligible and 20 were available for data extraction. DAs were developed from 1996 to 2013 in six countries (UK, USA, Canada, Australia, Sweden, and France). Five DAs were for prenatal screening, three for prenatal diagnosis and 12 for both). Eight contained values clarification methods (personal worksheets). The 20 DAs scored a median of 10/16 (range 6-15) on the 16 IPDAS minimum standards. None of the 20 included DAs met all 16 IPDAS minimum standards

Psychosocial Aspects of HIV and AIDS and the Evaluation of Preventive Strategies: Report on a WHO Meeting (Lisbon, Portugal, May 28-June 1, 1990). WHO Regional Publications, European Series, No. 36.

ERIC Educational Resources Information Center

World Health Organization, Copenhagen (Denmark). Regional Office for Europe.

The spread of Human Immunodeficiency Virus (HIV) and Acquired Immune Deficiency Syndrome (AIDS) depends very much on the way people behave. Individuals from some groups have been successfully persuaded to modify behaviors that put them at increased risk of HIV infection. The salient questions for future AIDS prevention and control programs are…

[Establish proposal of diagnosis and treatment of traditional Chinese medicine in AIDS patients with recurrent oral ulcerations].

PubMed

Pan, Ju-Hua; Huang, Shi-Jing; Zheng, Jun; Wu, Wei; Xue, Liu-Hua

2013-08-01

The pathogenesis of acquired immune deficiency syndrome-associated recurrent oral ulcerations (AIDS-ROU) remained obscure and these was no specific treatment for it. Syndrome differentiation in traditional Chinese medicine (TCM) focus on integral regulation and has an advantage of the disease that etiology and pathogenesis remain obscure. A draft of Chinese medicine diagnosis and treatment standard procedure for AIDS-ROU was established by literature retrieval and peer review. Two questionnaires were carried out to investigate the confirmation and advice of in-group specialist to key points of the draft including diagnosis, treatment and nursing. Then the procedures were revised accordingly. The preliminary results showed the recovery rate of complete questionnaires in the 1st survey was 96%. Specialists confirmed more on outline, case history and physical examinations, syndrome differentiation of hyperactivity of fire due to Yin deficiency syndrome (HFYDS), treatment of heat accumulated in heart and spleen syndrome (HAHSS) and HFYDS, treatment of western medicine and nursing. They held different opinions on incidence, treatment of deficiency of spleen-QI and stomach-QI syndrome (DSSS) and criterion of therapeutical evaluation. Cronbach coefficient alpha (CCA) was 0.998 and split-half reliability R was 0.91. Recovery rate of complete questionnaires in 2nd survey was 100%. Specialists confirmed more on outline, etiology and pathogenesis, case history and physical examination, auxiliary examination, diagnostic criteria, syndrome differentiation and treatment of HAHSS and HFYDS. They held different opinions on syndrome differentiation and treatment of intermingled cold and heat syndrome and DSSS, nursing and the other therapies. CCA was 0.428 and split-half reliability R was 0.96. Coefficient of variations of the 2nd survey were less than those of the 1st survey, which mean coordination was improved. Each single item in two surveys contributed less difference in

Genetically engineered Escherichia coli Nissle 1917 synbiotic counters fructose-induced metabolic syndrome and iron deficiency.

PubMed

Chaudhari, Archana Somabhai; Raghuvanshi, Ruma; Kumar, G Naresh

2017-06-01

Consumption of fructose leads to metabolic syndrome, but it is also known to increase iron absorption. Present study investigates the effect of genetically modified Escherichia coli Nissle 1917 (EcN) synbiotic along with fructose on non-heme iron absorption. Charles foster rats weighing 150-200 g were fed with iron-deficient diet for 2 months. Probiotic treatment of EcN (pqq) and EcN (pqq-glf-mtlK) was given once per week, 10 9  cells after 2 months with fructose in drinking water. Iron levels, blood, and liver parameters for oxidative stress, hyperglycemia, and dyslipidemia were estimated. Transferrin-bound iron levels in the blood decreased significantly after 10 weeks of giving iron-deficient diet. Probiotic treatment of EcN (pqq-glf-mtlK) and fructose together led to the restoration of normal transferrin-bound iron levels and blood and hepatic antioxidant levels as compared to iron-deficient control group. The probiotic also led to the restoration of body weight along with levels of serum and hepatic lipid, blood glucose, and antioxidant in the blood and liver as compared to iron-deficient control group. Restoration of liver injury marker enzymes was also seen. Administration of EcN-producing PQQ and mannitol dehydrogenase enzyme together with fructose led to increase in the transferrin-bound iron levels in the blood and amelioration of consequences of metabolic syndrome caused due to fructose consumption.

Mechanism of choline deficiency and membrane alteration in postural orthostatic tachycardia syndrome primary skin fibroblasts

PubMed Central

Schenkel, Laila C.; Singh, Ratnesh K.; Michel, Vera; Zeisel, Steven H.; da Costa, Kerry-Ann; Johnson, Amy R.; Mudd, Harvey S.; Bakovic, Marica

2015-01-01

Fibroblasts from a patient with postural orthostatic tachycardia syndrome (POTS), who presented with low plasma choline and betaine, were studied to determine the metabolic characteristics of the choline deficiency. Choline is required for the synthesis of the phospholipid phosphatidylcholine (PC) and for betaine, an important osmoregulator. Here, choline transport, lipid homeostasis, and mitochondria function were analyzed in skin fibroblasts from POTS and compared with control cells. The choline transporter-like protein 1/solute carrier 44A1 (CTL1/SLC44A1) and mRNA expression were 2–3 times lower in POTS fibroblasts, and choline uptake was reduced 60% (P < 0.05). Disturbances of membrane homeostasis were observed by reduced ratios between PC:phosphatidylethanolamine and sphingomyelin:cholesterol, as well as by modified phospholipid fatty acid composition. Choline deficiency also impaired mitochondria function, which was observed by a reduction in oxygen consumption, mitochondrial potential, and glycolytic activity. When POTS cells were treated with choline, transporter was up-regulated, and uptake of choline increased, offering an option for patient treatment. The characteristics of the POTS fibroblasts described here represent a first model of choline and CTL1/SLC44A1 deficiency, in which choline transport, membrane homeostasis, and mitochondrial function are impaired.—Schenkel, L. C., Singh, R. K., Michel, V., Zeisel, S. H., da Costa, K.-A., Johnson, A. R., Mudd, H. S., Bakovic, M. Mechanism of choline deficiency and membrane alteration in postural orthostatic tachycardia syndrome primary skin fibroblasts. PMID:25466896

A syndrome of acute zinc deficiency during total parenteral alimentation in man.

PubMed Central

Kay, R G; Tasman-Jones, C; Pybus, J; Whiting, R; Black, H

1976-01-01

Changes in the plasma and urine levels of the trace metal zinc have been followed in a series of 37 adult patients totally supported by intravenous alimentation. Copper has also been determined in more recent cases. In such a seriously ill group, although urinary zinc loss may be very high at the height of catabolism, severe plasma depletion does not occur unless there is a subsequent phase of sustained anabolism and weight gain. In four patients plasma zinc fell to very low levels during this phase and three of this group developed a syndrome characterized by diarrhea, mental depression, para-nasal, oral and peri-oral dermatitis, and alopecia. The response to oral or intravenous zinc therapy is striking, except for hair regrowth which is delayed but eventually complete. The syndrome we have recognized in adult man has not been previously described. It resembles however the parakeratosis of zinc deficient swine and it is also very similar to Acrodermatitis enteropathica, a genetically determined disorder of infants very recently linked to zinc deficiency. Zinc is clearly essential to human metabolism and it should be included in all parenteral alimentation regimes particularly during the period of rapid, sustained, weight gain. Images Fig. 1. Fig. 2. Fig. 3. Fig. 6. Fig. 7. Fig. 9. Fig. 10. PMID:817677

The Process and Pitfalls of Developing a Culturally Relevant Curriculum To Reduce AIDS among Sexually Active Teenagers: The Take 5 Project.

ERIC Educational Resources Information Center

Gillmore, Mary R.; And Others

Several studies have shown that adolescents have reasonably high levels of knowledge about Acquired Immune Deficiency Syndrome (AIDS) transmission and prevention, yet they still engage in risky sexual activities. In response to this dilemma, a theoretically and empirically grounded intervention which went beyond presenting facts and figures was…

IGF-I deficiency, longevity and cancer protection of patients with Laron syndrome.

PubMed

Laron, Zvi; Kauli, Rivka; Lapkina, Lena; Werner, Haim

Laron syndrome (LS) is a unique model of congenital IGF-I deficiency. It is characterized by dwarfism and obesity, and is caused by deletion or mutations of the growth hormone receptor (GH-R) gene. It is hypothesized that LS is an old disease originating in Indonesia and that the mutated gene spread to South Asia, the Middle East, the Mediterranean region and South America. Copyright © 2016 Elsevier B.V. All rights reserved.

The case against compulsory casefinding in controlling AIDS--testing, screening and reporting.

PubMed

Gostin, L O; Curran, W J; Clark, M E

1987-01-01

The spread of acquired immune deficiency syndrome (AIDS) demands a comprehensive and effective public health response. Because no treatment or vaccine is currently available, traditional infection control measures are being considered. Proposals include compulsory testing and screening of selected high risk populations. The fairness and accuracy of compulsory screening programs depend upon the reliability of medical technology and the balancing of public health and individual confidentiality interests. This Article proposes criteria for evaluating compulsory testing and screening programs. It concludes that voluntary identification, education, and counselling of infected persons is the most effective means of encouraging the behavioral changes that are necessary to halt the spread of AIDS.

ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.

PubMed

Sakai, Chika; Yamaguchi, Seiji; Sasaki, Masayuki; Miyamoto, Yusaku; Matsushima, Yuichi; Goto, Yu-ichi

2015-02-01

The human ECHS1 gene encodes the short-chain enoyl coenzyme A hydratase, the enzyme that catalyzes the second step of β-oxidation of fatty acids in the mitochondrial matrix. We report on a boy with ECHS1 deficiency who was diagnosed with Leigh syndrome at 21 months of age. The patient presented with hypotonia, metabolic acidosis, and developmental delay. A combined respiratory chain deficiency was also observed. Targeted exome sequencing of 776 mitochondria-associated genes encoded by nuclear DNA identified compound heterozygous mutations in ECHS1. ECHS1 protein expression was severely depleted in the patient's skeletal muscle and patient-derived myoblasts; a marked decrease in enzyme activity was also evident in patient-derived myoblasts. Immortalized patient-derived myoblasts that expressed exogenous wild-type ECHS1 exhibited the recovery of the ECHS1 activity, indicating that the gene defect was pathogenic. Mitochondrial respiratory complex activity was also mostly restored in these cells, suggesting that there was an unidentified link between deficiency of ECHS1 and respiratory chain. Here, we describe the patient with ECHS1 deficiency; these findings will advance our understanding not only the pathology of mitochondrial fatty acid β-oxidation disorders, but also the regulation of mitochondrial metabolism. © 2014 WILEY PERIODICALS, INC.

High frequency of empty sella syndrome in children with growth hormone deficiency.

PubMed

Pocecco, M; de Campo, C; Marinoni, S; Tommasini, G; Basso, T; Muzzolini, C; Sacher, B

1989-02-01

Computer-assisted tomography (CT) with 2 mm axial sections and reconstructions was carried out in 31 children affected by GH deficiency (GHD): 18 with idiopathic complete isolated GHD, 3 with idiopathic partial isolated GHD, 2 with idiopathic panhypopituitarism, 4 with isolated acquired GHD and 4 with acquired panhypopituitarism. Density in the intrasellar area on CT corresponded to that of cerebrospinal fluid in 13/20 cases with idiopathic hypopituitarism and in 2/8 cases with acquired hypopituitarism. The overall incidence of primary empty sella syndrome (PESS) in the GH deficient patients studied was thus over 48%, while in children without endocrine dysfunction, it was only 5/213 (2.4%). It is concluded that PESS is more frequent in childhood than assumed until now and that it is frequently associated with GHD.

Clinical epidemiology of HIV/AIDS in China from 2004-2011.

PubMed

Li, Min; Shen, Yinzhong; Jiang, Xiaofei; Li, Qi; Zhou, Xiaoming; Lu, Hongzhou

2014-02-01

This study retrospectively analyzed Chinese publicly reported data on Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome (HIV/AIDS). The HIV/AIDS morbidity (1/100,000) and mortality (1/100,000) rates in China continually increased from 0.23 and 0.06 in 2004 to 1.53 and 0.69 in 2011, respectively. The AIDS case fatality rate decreased yearly from 53.57% in 2008 to 45.11% in 2011, and the fatality rate in rural areas (0.25-0.42%) was higher than that in cities (0.13-0.22%). The number of HIV/AIDS patients discharged from city-level hospitals increased from 329 in 2004 to 7,266 in 2011, and this number was higher than the number of similar patients discharged from county-level (rural) hospitals (the number of HIV/AIDS patients increased from 252 in 2004 to 5,957 in 2011). The factors contributing to these trends include: enhanced physician HIV/AIDS education regarding diagnosis, intervention, monitoring, testing, and treatment; improved safety of blood collection and use; and improved management of HIV/AIDS patients. Therefore, HIV/AIDS prevention and control in rural areas of China is the key to reducing HIV transmission and mortality in China.

Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency

PubMed Central

Stephen, Joshi; Vilboux, Thierry; Mian, Luhe; Kuptanon, Chulaluck; Sinclair, Courtney M.; Yildirimli, Deniz; Maynard, Dawn M.; Bryant, Joy; Fischer, Roxanne; Vemulapalli, Meghana; Mullikin, James C.; Huizing, Marjan; Gahl, William A.

2017-01-01

Joubert syndrome and related disorders (JSRD) are a heterogeneous group of ciliopathies defined based on the mid-hindbrain abnormalities that result in the characteristic “molar tooth sign” on brain imaging. The core clinical findings of JSRD are hypotonia, developmental delay, abnormal eye movements and breathing abnormalities. To date, more than 30 JSRD genes that encode proteins important for structure and/or function of cilia have been identified. Here, we present 2 siblings with Joubert syndrome associated with growth hormone deficiency. Whole exome sequencing of the family identified compound heterozygous mutations in KIAA0753, i.e., a missense mutation (p.Arg257Gly) and an intronic mutation (c.2359-1G>C). The intronic mutation alters normal splicing by activating a cryptic acceptor splice site in exon 16. The novel acceptor site skips nine nucleotides, deleting three amino acids from the protein coding frame. KIAA0753 (OFIP) is a centrosome and pericentriolar satellite protein, previously not known to cause Joubert syndrome. We present comprehensive clinical descriptions of the Joubert syndrome patients as well as the cellular phenotype of defective ciliogenesis in the patients’ fibroblasts. PMID:28220259

[Observation on therapeutic effect of acupuncture combined with chinese herbs on polycystic ovary syndrome of kidney deficiency and phlegm stasis type].

PubMed

Shi, Yin; Feng, Hui-jun; Liu, Hui-rong; Zhu, Dan

2009-02-01

To observe the clinical therapeutic effect of acupuncture combined with Chinese herbs on polycystic ovary syndrome of kidney deficiency and phlegm stasis type and probe into the mechanism. Sixty-three cases of polycystic ovary syndrome of kidney deficiency and phlegm stasis type were randomly divided in to a combined acupuncture and Chinese herb group (n=32) treated with acupuncture at Qihai (CV 6), Guanyuan (CV 4), et al. and oral administration of Chinese herbs, and a simple Chinese herb group (n=31) treated with oral administration of the same Chinese herbs as in the combined acupuncture and Chinese herb group. The therapeutic effects and changes of follicle stimulating hormone (FSH), luteotropic hormone (LH), testosterone (T) and LH/FSH were compared between the two groups. The total effective rate was 93.8% in the combined acupuncture and Chinese herb group and 80.6% in the simple Chinese herb group, the former being significantly better than the latter (P < 0.05). The decrease of T in the combined acupuncture and Chinese herb group was significantly su perior to that in the simple Chinese herb group (P < 0.01). Acupuncture combined with Chinese herb therapy is superior to the simple Chinese herb in the clinical therapeutic effect on polycystic ovary syndrome of kidney deficiency and phlegm stasis type and decrease of T level, indicating this method is a better one for polycystic ovary syndrome of kidney deficiency and phlegm stasis type.

The Role of Language and Education in Eradicating HIV/AIDS in Africa: Evidence from Parents, Teachers, and Students

ERIC Educational Resources Information Center

Okebukola, Foluso O.; Adegbite, Hassan H.; Owolabi, Tunde

2013-01-01

The study focuses on the eradication and reversal of the spread of HIV/AIDS (human immune virus/acquired immune deficiency syndrome) as one of the main thrusts of Africa's 21st Century Development Goals. It investigates the significant role which language and education can play in fast tracking the attainment of this goal using a three-pronged…

HIV-2 and its role in conglutinated approach towards Acquired Immunodeficiency Syndrome (AIDS) Vaccine Development.

PubMed

Diwan, Batul; Saxena, Rupali; Tiwari, Archana

2013-12-01

Acquired Immunodeficiency Syndrome (AIDS) is one of the most critically acclaimed endemic diseases, caused by two lentiviruses HIV-1 and 2. HIV-2 displays intimate serological and antigenic resemblance to Simian Immunodeficiency Virus (SIV) along with less pathogenicity, lower infectivity and appreciable cross reactivity with HIV-1 antigens. The present era is confronted with the challenge to fabricate a vaccine effective against all clades of both the species of HIV. But vaccine development against HIV-1 has proven highly intricate, moreover the laborious and deficient conventional approaches has slackened the pace regarding the development of new vaccines. These concerns may be tackled with the development of HIV-2 vaccine as a natural control of HIV-1 that has been found in ancestors of HIV-2 i.e. African monkeys, mangabeys and macaques. Thereby, suggesting the notion of cross protection among HIV-2 and HIV-1. Assistance of bioinformatics along with vaccinomics strategy can bring about a quantum leap in this direction for surpassing the bottleneck in conventional approaches. These specifics together can add to our conception that HIV-2 vaccine design by in silico strategy will surely be a constructive approach for HIV-1 targeting.

Vocational Rehabilitation Services to Persons with H.I.V. (AIDS). Institute on Rehabilitation Issues (16th, Savannah, Georgia). Report from the Study Group.

ERIC Educational Resources Information Center

Corthell, David W.; Oliverio, Michael

This training manual addresses the vocational rehabilitation (VR) of persons with the Human Immunodeficiency Virus (HIV) or AIDS (Acquired Immune Deficiency Syndrome) and related conditions. It considers the medical, cultural, social, legal, psychological, and economic implications of this condition; and how these factors relate to the vocational…

Effect of traditional Chinese medicine for treating human immunodeficiency virus infections and acquired immune deficiency syndrome: Boosting immune and alleviating symptoms.

PubMed

Zou, Wen; Wang, Jian; Liu, Ying

2016-01-01

To respond to the human immunodeficiency virus (HIV)/acquired immune deficiency syndrome (AIDS) epidemic in China, the integration of antiretroviral therapy (ART) and traditional Chinese medicine (TCM) has important implications in health outcomes, especially in China where the use of TCM is widespread. The National Free TCM Pilot Program for HIV Infected People began in 5 provinces (Henan, Hebei, Anhui, Hubei, and Guangdong) in 2004, and quickly scaled up to 19 provinces, autonomous regions, and municipalities in China including some places with high prevalence, 26,276 adults have been treated thus far. Usually, people with HIV infection seek TCM for four main reasons: to enhance immune function, to treat symptoms, to improve quality of life, and to reduce side effects related to medications. Evidences from randomized controlled clinical trials suggested some beneficial effects of use of traditional Chinese herbal medicine for HIV infections and AIDS. More proofs from large, well-designed, rigorous trials is needed to give firm support. Challenges include interaction between herbs and antiretroviral drugs, stigma and discrimination. The Free TCM Program has made considerable progress in providing the necessary alternative care and treatment for HIV-infected people in China, and has strong government support for continued improvement and expansion, establishing and improving a work mechanism integrating Chinese and Western medicines.

The acquired immunodeficiency syndrome (AIDS): Memorandum from a WHO Meeting*

PubMed Central

1985-01-01

An International Conference on Acquired Immunodeficiency Syndrome (AIDS), sponsored by the United States Department of Health and Human Services and the World Health Organization, was held in Atlanta on 15-17 April 1985. More than 3000 participants from 50 countries attended. This conference was followed by a meeting organized by WHO on 18-19 April where the participants reviewed the information presented at the conference and assessed its international health implications, which are described in this Memorandum. PMID:3878739

Delayed Adrenarche may be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome.

PubMed

Van Hulle, Severine; Craen, Margarita; Callewaert, Bert; Joustra, Sjoerd; Oostdijk, Wilma; Losekoot, Monique; Wit, Jan Maarten; Turgeon, Marc Olivier; Bernard, Daniel J; De Schepper, Jean

2016-03-05

Immunoglobulin super family member 1 (IGSF1) deficiency syndrome is characterized by central hypothyroidism, delayed surge in testosterone during puberty, macro-orchidism, and in some cases, hypoprolactinemia and/or transient growth hormone (GH) deficiency. Our patient was a 19-year-old male adolescent who had been treated since the age of 9 years with GH and thyroxine for an idiopathic combined GH, thyroid-stimulating hormone (TSH), and prolactin (PRL) deficiency. His GH deficiency proved to be transient, but deficiencies of TSH and PRL persisted, and he had developed macro-orchidism since the end of puberty. Brain magnetic resonance imaging and PROP1 and POU1F1 sequencing were normal. A disharmonious puberty (delayed genital and pubic hair development, bone maturation, and pubertal growth spurt, despite normal testicular growth) was observed as well as a delayed adrenarche, as reflected by very low dehydroepiandrosterone sulfate and delayed pubarche. Direct sequencing of the IGSF1 gene revealed a novel hemizygous mutation, c.3127T>C, p.Cys1043Arg. Pathogenicity of the mutation was demonstrated in vitro. Male children with an idiopathic combined GH, PRL, and TSH deficiency, showing persistent central hypothyroidism but transient GH deficiency upon retesting at adult height, should be screened for mutations in the IGSF1 gene, especially when macro-orchidism and/or hypoprolactinemia are present. We suspect that delayed adrenarche, as a consequence of PRL deficiency, might be part of the clinical phenotype of patients with IGSF1 deficiency.

Delayed Adrenarche may be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome

PubMed Central

Hulle, Severine Van; Craen, Margarita; Callewaert, Bert; Joustra, Sjoerd; Oostdijk, Wilma; Losekoot, Monique; Wit, Jan Maarten; Turgeon, Marc Olivier; Bernard, Daniel J.; Schepper, Jean De

2016-01-01

Immunoglobulin super family member 1 (IGSF1) deficiency syndrome is characterized by central hypothyroidism, delayed surge in testosterone during puberty, macro-orchidism, and in some cases, hypoprolactinemia and/or transient growth hormone (GH) deficiency. Our patient was a 19-year-old male adolescent who had been treated since the age of 9 years with GH and thyroxine for an idiopathic combined GH, thyroid-stimulating hormone (TSH), and prolactin (PRL) deficiency. His GH deficiency proved to be transient, but deficiencies of TSH and PRL persisted, and he had developed macro-orchidism since the end of puberty. Brain magnetic resonance imaging and PROP1 and POU1F1 sequencing were normal. A disharmonious puberty (delayed genital and pubic hair development, bone maturation, and pubertal growth spurt, despite normal testicular growth) was observed as well as a delayed adrenarche, as reflected by very low dehydroepiandrosterone sulfate and delayed pubarche. Direct sequencing of the IGSF1 gene revealed a novel hemizygous mutation, c.3127T>C, p.Cys1043Arg. Pathogenicity of the mutation was demonstrated in vitro. Male children with an idiopathic combined GH, PRL, and TSH deficiency, showing persistent central hypothyroidism but transient GH deficiency upon retesting at adult height, should be screened for mutations in the IGSF1 gene, especially when macro-orchidism and/or hypoprolactinemia are present. We suspect that delayed adrenarche, as a consequence of PRL deficiency, might be part of the clinical phenotype of patients with IGSF1 deficiency. PMID:26757742

Hyper-IgM syndrome type 4 with a B lymphocyte–intrinsic selective deficiency in Ig class-switch recombination

PubMed Central

Imai, Kohsuke; Catalan, Nadia; Plebani, Alessandro; Maródi, László; Sanal, Özden; Kumaki, Satoru; Nagendran, Vasantha; Wood, Philip; Glastre, Catherine; Sarrot-Reynauld, Françoise; Hermine, Olivier; Forveille, Monique; Revy, Patrick; Fischer, Alain; Durandy, Anne

2003-01-01

Hyper-IgM syndrome (HIGM) is a heterogeneous condition characterized by impaired Ig class-switch recombination (CSR). The molecular defects that have so far been associated with this syndrome — which affect the CD40 ligand in HIGM type 1 (HIGM1), CD40 in HIGM3, and activation-induced cytidine deaminase (AID) in HIGM2 — do not account for all cases. We investigated the clinical and immunological characteristics of 15 patients with an unidentified form of HIGM. Although the clinical manifestations were similar to those observed in HIGM2, these patients exhibited a slightly milder HIGM syndrome with residual IgG production. We found that B cell CSR was intrinsically impaired. However, the generation of somatic hypermutations was observed in the variable region of the Ig heavy chain gene, as in control B lymphocytes. In vitro studies showed that the molecular defect responsible for this new HIGM entity (HIGM4) occurs downstream of the AID activity, as the AID gene was induced normally and AID-induced DNA double-strand breaks in the switch μ region of the Ig heavy chain locus were detected during CSR as normal. Thus, HIGM4 is probably the consequence of a selective defect either in a CSR-specific factor of the DNA repair machinery or in survival signals delivered to switched B cells. PMID:12840068

Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.

PubMed

Lavoine, N; Colas, C; Muleris, M; Bodo, S; Duval, A; Entz-Werle, N; Coulet, F; Cabaret, O; Andreiuolo, F; Charpy, C; Sebille, G; Wang, Q; Lejeune, S; Buisine, M P; Leroux, D; Couillault, G; Leverger, G; Fricker, J P; Guimbaud, R; Mathieu-Dramard, M; Jedraszak, G; Cohen-Hagenauer, O; Guerrini-Rousseau, L; Bourdeaut, F; Grill, J; Caron, O; Baert-Dusermont, S; Tinat, J; Bougeard, G; Frébourg, T; Brugières, L

2015-11-01

Constitutional mismatch repair deficiency (CMMRD) syndrome is a childhood cancer predisposition syndrome involving biallelic germline mutations of MMR genes, poorly recognised by clinicians so far. Retrospective review of all 31 patients with CMMRD diagnosed in French genetics laboratories in order to describe the characteristics, treatment and outcome of the malignancies and biological diagnostic data. 67 tumours were diagnosed in 31 patients, 25 (37%) Lynch syndrome-associated malignancies, 22 (33%) brain tumours, 17 (25%) haematological malignancies and 3 (5%) sarcomas. The median age of onset of the first tumour was 6.9 years (1.2-33.5). Overall, 22 patients died, 9 (41%) due to the primary tumour. Median survival after the diagnosis of the primary tumour was 27 months (0.26-213.2). Failure rate seemed to be higher than expected especially for T-cell non-Hodgkin's lymphoma (progression/relapse in 6/12 patients). A familial history of Lynch syndrome was identified in 6/23 families, and consanguinity in 9/23 families. PMS2 mutations (n=18) were more frequent than other mutations (MSH6 (n=6), MLH1 (n=4) and MSH2 (n=3)). In conclusion, this unselected series of patients confirms the extreme severity of this syndrome with a high mortality rate mostly related to multiple childhood cancers, and highlights the need for its early detection in order to adapt treatment and surveillance. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.

PubMed

Bakry, Doua; Aronson, Melyssa; Durno, Carol; Rimawi, Hala; Farah, Roula; Alharbi, Qasim Kholaif; Alharbi, Musa; Shamvil, Ashraf; Ben-Shachar, Shay; Mistry, Matthew; Constantini, Shlomi; Dvir, Rina; Qaddoumi, Ibrahim; Gallinger, Steven; Lerner-Ellis, Jordan; Pollett, Aaron; Stephens, Derek; Kelies, Steve; Chao, Elizabeth; Malkin, David; Bouffet, Eric; Hawkins, Cynthia; Tabori, Uri

2014-03-01

Constitutional mismatch repair deficiency (CMMRD) is a devastating cancer predisposition syndrome for which data regarding clinical manifestations, molecular screening tools and management are limited. We established an international CMMRD consortium and collected comprehensive clinical and genetic data. Molecular diagnosis of tumour and germline biospecimens was performed. A surveillance protocol was developed and implemented. Overall, 22/23 (96%) of children with CMMRD developed 40 different tumours. While childhood CMMRD related tumours were observed in all families, Lynch related tumours in adults were observed in only 2/14 families (p=0.0007). All children with CMMRD had café-au-lait spots and 11/14 came from consanguineous families. Brain tumours were the most common cancers reported (48%) followed by gastrointestinal (32%) and haematological malignancies (15%). Importantly, 12 (30%) of these were low grade and resectable cancers. Tumour immunohistochemistry was 100% sensitive and specific in diagnosing mismatch repair (MMR) deficiency of the corresponding gene while microsatellite instability was neither sensitive nor specific as a diagnostic tool (p<0.0001). Furthermore, screening of normal tissue by immunohistochemistry correlated with genetic confirmation of CMMRD. The surveillance protocol detected 39 lesions which included asymptomatic malignant gliomas and gastrointestinal carcinomas. All tumours were amenable to complete resection and all patients undergoing surveillance are alive. CMMRD is a highly penetrant syndrome where family history of cancer may not be contributory. Screening tumours and normal tissues using immunohistochemistry for abnormal expression of MMR gene products may help in diagnosis and early implementation of surveillance for these children. Copyright © 2013 Elsevier Ltd. All rights reserved.

Prevalence and clinical correlates of metabolic syndrome in Nigerians living with human immunodeficiency virus/acquired immunodeficiency syndrome.

PubMed

Ayodele, Olugbenga Edward; Akinboro, Adeolu Oludayo; Akinyemi, Suliat Omolola; Adepeju, Akinlawon Adetiloye; Akinremi, Oluwaseun Akinsanmi; Alao, Christiana Adeola; Popoola, Adetoun Adedayo

2012-10-01

Sub-Saharan Africa bears an inordinate burden of human immunodeficiency virus (HIV) infection/acquired immune deficiency syndrome (AIDS). Reports have shown increased prevalence of clustering of cardiovascular risk factors referred to as metabolic syndrome in treatment-naïve patients and patients on highly active antiretroviral therapy (HAART). In view of the fact that metabolic syndrome is a heterogeneous disorder with substantial variability in the prevalence and component traits within and across populations and the dearth of publications on the prevalence and clinical correlates of metabolic syndrome in people living with HIV/AIDS (PLWHA) in Nigeria, this study was carried out to determine the prevalence and clinical correlates of metabolic syndrome among an HIV-infected outpatient population using the National Cholesterol Education Adult Treatment Panel III (NCEP ATP III), the International Diabetes Federation (IDF), and the Joint Interim Statement (JIS) definitions. We also sought to determine if HAART use and CD4 count level were associated with metabolic syndrome. This cross-sectional study involved 291 (95 men, 196 women) consecutive PLWHA. Anthropometry, blood pressure, fasting plasma glucose, and lipid profile values were determined. The prevalence rates of metabolic syndrome according to the ATP III, IDF, and JIS criteria were 12.7%, 17.2%, and 21.0%, respectively. Metabolic syndrome was significantly associated with female gender (all definitions), body mass index (all definitions), increasing age, and CD4 count (IDF definition). There was no significant association between metabolic syndrome and HAART. The concordance [kappa coefficient (κ)] between the definitions of metabolic syndrome varied between 0.583 and 0.878. The prevalence of metabolic syndrome varied with the criteria used and metabolic syndrome correlates with traditional cardiovascular risk factors rather than HAART-related factors.

Hematopoietic progenitor cell deficiency in fetuses and children affected by Down's syndrome.

PubMed

Holmes, Denise K; Bates, Nicola; Murray, Mary; Ladusans, E J; Morabito, Antonino; Bolton-Maggs, Paula H B; Johnston, Tracey A; Walkenshaw, Steve; Wynn, Robert F; Bellantuono, Ilaria

2006-12-01

There is an increased risk of myeloid malignancy in individuals with Down's syndrome (DS), which is associated with a mutation in exon 2 of the transcription factor GATA-1. It is recognized that there is accelerated telomere shortening in blood cells of children with DS similar to that in conditions such as Fanconi anemia and dyskeratosis congenita. The latter conditions are associated with stem cell deficiency and clonal change, including acute myeloid leukemia. In this study we address the questions 1) whether the accelerated telomere shortening is associated with progenitor/stem cell deficiency in individuals with DS, predisposing to clonal change and 2) whether the occurrence of reduced numbers of stem/progenitor cells precede the incidence of mutations in exon 2 of GATA-1. Peripheral blood from fetuses (23-35 weeks gestation) and/or bone marrow from children affected by DS and age-matched hematologically healthy controls were analyzed for telomere length, content of stem/progenitor cells, and mutations in exon 2 of GATA-1. We found that hematopoietic stem/progenitor cell deficiency and telomere shortening occurs in individuals with DS in fetal life. Moreover, the presence of a low number of progenitor cells was not associated with mutations in exon 2 of GATA-1. We propose that stem cell deficiency may be a primary predisposing event to DS leukemia development.

Preclinical Cushing's syndrome presenting with isolated adrenocorticotropin (ACTH) deficiency-like manifestations and severe hypoalbuminemia without overt adrenal masses in a patient with Chilaiditi syndrome and mental retardation.

PubMed

Ikeda, Keiichi; Mizuguchi, Masato; Ebisawa, Toshihiro; Yoshida, Masaki; Uchida, Hiroyuki; Okabe, Hideaki; Sekita, Toru; Tojo, Katsuyoshi; Tajima, Naoko; Hosoya, Tatsuo

2003-05-01

A 52-year-old man with Chilaiditi syndrome and mental retardation was admitted to Kanagawa Rehabilitation Hospital for severe hypoglycemic coma with malnutrition. This patient was first diagnosed as partial isolated adrenocorticotropin deficiency according to his symptoms and clinical course, but he was finally diagnosed as preclinical Cushing's syndrome. Manifestations of this case seemed unusual in spite of autonomic cortisol secretion and the detailed mechanisms of symptoms were unclear. The present case indicates that preclinical Cushing's syndrome may present with various manifestations, and careful diagnosis is necessary.

An elective seminar to teach first-year students the social and medical aspects of AIDS.

PubMed

Goldman, J D

1987-07-01

First-year students at a midwestern medical school are introduced to a comprehensive approach to the biological, psychological, and social aspects of acquired immune deficiency syndrome (AIDS). In a seven-week elective seminar (approximately 12 hours in length), the students view a television movie and a documentary film about persons with AIDS and their families and friends, and they participate in roundtable discussions with AIDS patients, volunteers who coordinate support and advocacy for persons with AIDS, and health care professionals involved in the care of AIDS patients. They receive reading materials and lectures on the pathology, epidemiology, and history of AIDS, and they monitor and discuss radio and television reporting on AIDS. In wrap-up sessions and evaluation questionnaires, the students have reported the seminar to be valuable in helping them overcome their fear of the disease, develop empathy for patients with catastrophic diseases, and understand a comprehensive approach to a complex disease.

Psychological Correlates of the Transmission and Acceptance of Rumors about AIDS = Correlates Psychologiques Entre la Transmission et l'Acceptation des Rumeurs sur le SIDA.

ERIC Educational Resources Information Center

Kimmel, Allan J.

Public reactions to the Acquired Immune Deficiency Syndrome (AIDS) crisis are accompanied by the sorts of emotional and cognitive factors that have been identified by researchers as predictors of rumor generation and transmission. The present investigation attempted to ascertain the extent that various subjective factors (including anxiety,…

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.

PubMed

Tuppen, Helen A L; Hogan, Vanessa E; He, Langping; Blakely, Emma L; Worgan, Lisa; Al-Dosary, Mazhor; Saretzki, Gabriele; Alston, Charlotte L; Morris, Andrew A; Clarke, Michael; Jones, Simon; Devlin, Anita M; Mansour, Sahar; Chrzanowska-Lightowlers, Zofia M A; Thorburn, David R; McFarland, Robert; Taylor, Robert W

2010-10-01

Isolated complex I deficiency is the most frequently observed oxidative phosphorylation defect in children with mitochondrial disease, leading to a diverse range of clinical presentations, including Leigh syndrome. For most patients the genetic cause of the biochemical defect remains unknown due to incomplete understanding of the complex I assembly process. Nonetheless, a plethora of pathogenic mutations have been described to date in the seven mitochondrial-encoded subunits of complex I as well as in 12 of the nuclear-encoded subunits and in six assembly factors. Whilst several mitochondrial DNA mutations are recurrent, the majority of these mutations are reported in single families. We have sequenced core structural and functional nuclear-encoded subunits of complex I in a cohort of 34 paediatric patients with isolated complex I deficiency, identifying pathogenic mutations in 6 patients. These included a novel homozygous NDUFS1 mutation in an Asian child with Leigh syndrome, a previously identified NDUFS8 mutation (c.236C>T, p.P79L) in a second Asian child with Leigh-like syndrome and six novel, compound heterozygous NDUFS2 mutations in four white Caucasian patients with Leigh or Leigh-like syndrome. Three of these children harboured an identical NDUFS2 mutation (c.875T>C, p.M292T), which was also identified in conjunction with a novel NDUFS2 splice site mutation (c.866+4A>G) in a fourth Caucasian child who presented to a different diagnostic centre, with microsatellite and single nucleotide polymorphism analyses indicating that this was due to an ancient common founder event. Our results confirm that NDUFS2 is a mutational hotspot in Caucasian children with isolated complex I deficiency and recommend the routine diagnostic investigation of this gene in patients with Leigh or Leigh-like phenotypes.

Proceedings of the International Conference on AIDS and Homeless Youth: An Agenda for the Future (1st, San Francisco, California, June 25, 1990).

ERIC Educational Resources Information Center

Luna, G. Cajetan; And Others

This proceedings of the first international conference on Acquired Immune Deficiency Syndrome (AIDS) and homeless youth included over 125 delegates from 32 countries. There was strong consensus among delegates that street youth are often in high and multiple Human Immunodeficiency Virus (HIV) risk situations, and programmatic responses are needed.…

Impact of health education on prostitutes' awareness and attitudes to acquired immune deficiency syndrome (AIDS).

PubMed

Chikwem, J O; Ola, T O; Gashau, W; Chikwem, S D; Bajami, M; Mambula, S

1988-09-01

767 female prostitutes in Maiduguri, Nigeria responded to a questionnaire on AIDS. Their motives and activities, awareness of HIV, transmission, prevention, and cure of AIDS and attitudes towards HIV carriers were examined. Researchers administered this questionnaire after the prostitutes had attended health education sessions on AIDS. Approximately 78% of the prostitutes were under 30 years old and 72.6% were married or had been married. 74.58% were mothers. 27% originated from neighboring countries. Patrons included civil servants, businessmen, petty traders, and craftsmen. On average, each prostitute entertained 3.3 customers/day and had sex with 1046 customers/year. 85.92% of the prostitutes claimed financial reasons such as supporting their children, for practicing prostitution. The majority of the women indicated that they generally received injections of antibiotics to prevent sexually transmitted diseases (STDs) via reused syringes and needles. 7.04% admitted to having had an STD in the past, but the researchers believe the percentage is too low. No prostitute claimed to use any hard drugs. Even though the prostitutes were receptive to health education, only 7.1% remembered that AIDS is caused by a virus and 84.3% just could not remember the causative agent. The majority (75.7%) did remember that sexual intercourse is a mode of transmission, but only 50% realized that infected blood and blood products were modes of transmission. The majority of the prostitutes indicated that they would use a condom when having sex. In addition, all stated that, if they later learn that they carry HIV, they would stop practicing prostitution. Most of the women wanted some form of restriction for HIV carriers, such as confinement or hospitalization until a cure is found. These results suggest that health education is needed and must reach the general population.

The clinical syndrome of specific antibody deficiency in children.

PubMed

Boyle, R J; Le, C; Balloch, A; Tang, M L-K

2006-12-01

Specific antibody deficiency (SAD) is an immune deficiency which has been reported in adults and children with recurrent respiratory tract infections; however, the clinical features of SAD are not well described. This study evaluated formally the clinical syndrome of SAD, by comparing the clinical features of children with SAD and those of children with recurrent infection but normal immune function tests. SAD was defined as an adequate IgG antibody response to less than 50% of 12 pneumococcal serotypes tested following 23-valent unconjugated pneumococcal immunization. An adequate IgG antibody response was defined as a post-immunization titre of >or= 1.3 microg/ml or >or= four times the preimmunization value. Seventy-four children with recurrent infection were evaluated where immune deficiencies other than SAD had been excluded. Eleven (14.9%) of these children had SAD. Clinical features differed between the group with SAD and the group with normal antibody responses. A history of otitis media, particularly in association with chronic otorrhoea was associated with SAD [relative risk (RR) of SAD in those with chronic otorrhoea 4.64 (P = 0.02)]. SAD was associated with allergic disease, particularly allergic rhinitis [RR of SAD in those with allergic rhinitis 3.77 (P = 0.04)]. These two clinical associations of SAD were independent in this study [RR of chronic otorrhoea in those with allergic rhinitis 0.85 (P = 0.28)]. SAD was not an age-related phenomenon in this population. SAD has a distinct clinical phenotype, presenting as recurrent infection associated with chronic otorrhoea and/or allergic disease, and the condition should be sought in children with these features.

GLUT1 deficiency syndrome as a cause of encephalopathy that includes cognitive disability, treatment-resistant infantile epilepsy and a complex movement disorder.

PubMed

Graham, John M

2012-05-01

Glucose transporter-1 (GLUT1) deficiency syndrome is caused by heterozygous mutations in the SLC2A1 gene, resulting in impaired glucose transport into the brain. It is characterized by a low glucose concentration in the cerebrospinal fluid (hypoglycorrhachia) in the absence of hypoglycemia, in combination with low to normal lactate in the cerebrospinal fluid (CSF). It often results in treatment-resistant infantile epilepsy with progressive developmental disabilities and a complex movement disorder. Recognizing GLUT1 deficiency syndrome is important, since initiation of a ketogenic diet can reduce the frequency of seizures and the severity of the movement disorder. There can be a considerable delay in diagnosing GLUT1 deficiency syndrome, and this point is illustrated by the natural history of this disorder in a 21-year-old woman with severe, progressive neurological disabilities. Her encephalopathy consisted of treatment-resistant seizures, a complex movement disorder, progressive intellectual disability, and deceleration of her head growth after late infancy. Focused evaluation at age 21 revealed GLUT1 deficiency caused by a novel heterozygous missence mutation in exon 7 (c.938C > A; p.Ser313Try) in SLC2A1 as the cause for her disabilities. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

Gendered differences in AIDS and AIDS-related cause of death among youth with secondary education in South Africa, 2009-2011.

PubMed

De Wet, Nicole

2016-12-01

The prevalence of human immunodeficiency virus (HIV)/acquired immune deficiency syndrome (AIDS) is higher among females than males in Sub-Saharan Africa. Education is associated with better health outcomes. For this and other reasons, African countries have made a concerted effort to increase youth education rates. However, in South Africa males have lower secondary education rates than females, yet females have a higher prevalence of HIV/AIDS. This study examines if a gender disparity exists in AIDS mortality rates among youth with secondary education in South Africa. This study uses descriptive statistics and life table techniques. A sample of 4386 deaths of youth with secondary education is used. Of this total sample, 987 deaths were among males and 340 were among females with secondary education. This study shows that AIDS mortality is higher among females than males in South Africa. Males and females with secondary education have lower AIDS mortality than all males and females in the population, yet the rates are higher for females. Using cause-deleted life tables, the probability of youth dying from HIV/AIDS practically disappears for both males and females. Odds ratio calculations show that secondary education does not have a protective effect from AIDS mortality among male and female youth. Given the gendered difference in AIDS mortality among youth with secondary education, efforts to increase secondary education among males and further research into other factors exacerbating AIDS mortality among females with secondary education is needed in the country.

Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

PubMed

Wimmer, Katharina; Etzler, Julia

2008-09-01

Heterozygous mutations in one of the mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2 cause the dominant adult cancer syndrome termed Lynch syndrome or hereditary non-polyposis colorectal cancer. During the past 10 years, some 35 reports have delineated the phenotype of patients with biallelic inheritance of mutations in one of these MMR genes. The patients suffer from a condition that is characterised by the development of childhood cancers, mainly haematological malignancies and/or brain tumours, as well as early-onset colorectal cancers. Almost all patients also show signs reminiscent of neurofibromatosis type 1, mainly café au lait spots. Alluding to the underlying mechanism, this condition may be termed as "constitutional mismatch repair-deficiency (CMMR-D) syndrome". To give an overview of the current knowledge and its implications of this recessively inherited cancer syndrome we summarise here the genetic, clinical and pathological findings of the so far 78 reported patients of 46 families suffering from this syndrome.

Integrating Social Marketing Into Fijian HIV/AIDS Prevention Programs: Lessons From Systematic Review.

PubMed

Sewak, Aarti; Singh, Gurmeet

2017-01-01

Social marketing techniques have been tested and proven useful within the health sector worldwide. In Fiji, social marketing was introduced in the early 1990s, and more rapidly during the last decade to improve national response to an increasing incidence of sexually transmitted infections (STIs) such as human immunodeficiency virus (HIV) and acquired immune deficiency syndrome (AIDS). Given the limited amount of research in the area of program evaluation in Pacific Island Countries and Territories (PICTs), this study systematically analyzes five Fijian HIV/AIDS prevention programs through Andreasen's benchmark criteria, in order to identify gaps in program design that ultimately impact program effectiveness. Assessment results unveil some interesting trends regarding the focus and applications of past Fijian HIV/AIDS prevention programs in the past decade. This article discusses these findings and other valuable lessons for future HIV/AIDS prevention strategies in Fiji and elsewhere.

The effects of HIV/AIDS on economic growth and human capitals: a panel study evidence from Asian countries.

PubMed

Roy, Shongkour

2014-01-01

Human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS) affects economic growths by reducing the human capitals are among the most poorly understood aspect of the AIDS epidemic. This article analyzes the effects of the prevalence of HIV and full-blown AIDS on a country's human capitals and economic growths. Using a fixed effect model for panel data 1990-2010 from the Asia, I explored the dynamic relationships among HIV/AIDS, economic growths, and human capitals within countries over time. The econometric effects concerned that HIV/AIDS plays an important role in the field of economic growths and it is measured as a change in real gross domestic product (GDP) per capita and human capitals. The modeling results for the Asian countries indicates HIV/AIDS prevalence that has a hurtful effect on GDP per capita by reducing human capitals within countries over time.

[Effect of AÇaí (Euterpe oleracea) on lipid metabolism, immune substances and endocrine hormone in rats with deficiency-heat and deficiency-cold syndrome].

PubMed

Wang, Zi-Chen; Zhang, Jian-Jun; Zhu, Ying-Li; Qu, Yan; Fei, Wen-Ting; Wang, Sha; Wang, Jing-Xia; Wang, Lin-Yuan

2017-07-01

To study the effects of AÇaí(Euterpe oleracea) on lipid metabolism, immune substances and endocrine hormone level in rats with deficiency-heat and deficiency-cold syndrome. SD rats were divided into blank control group, deficiency-heat model group, deficiency-heat & Phellodendri Cortex group, deficiency-heat & AÇaí high dose and low dose groups, deficiency-cold model group, deficiency-cold & Cinnamomi Cortex group, deficiency-cold & AÇaí high dose and low dose groups. The rats received intramuscular injection of dexamethasone sodium phosphate (0.35 mg) or hydrocortisone sodium succinate (20 mg) for 21 days to set up deficiency-heat models and deficiency-cold models. Then the changes in fatmetabolism levels (FFA, LPL, HL) and immune indexes (IgG, IgM, C3 and C4) were detected by colorimeter; and the levels of endocrine hormone indexes (CORT, E2 and T) were detected by radioimmunoassay. The levels of FFA, LPL and HL in serum were reduced (P<0.01 or P<0.001); levels of IgG, IgM and C3 in serum were increased (P<0.05 or P<0.001); level of CORT in serum was increased (P<0.05) and the level of E2, E2/T in serum were reduced in the AÇaí high dose group (P<0.05). The effect of high dose AÇaí on fat metabolism was not obvious in deficiency-cold models, but the levels of IgG, IgM, C3 and CORT in serum were increased (P<0.05 or P<0.001). AÇaí was showed the same effect trend with Phellodendri Cortex in adjusting the levels of deficiency-heat rats; but unlike Cinnamomi Cortex, AÇaí was showed no obvious effect in adjusting the levels of deficiency-cold rats. In this experiment, homogeneous comparison and heterogeneous disproof were used to verify the cold nature of Çaí. Copyright© by the Chinese Pharmaceutical Association.

A program using medical students to teach high school students about AIDS.

PubMed

Johnson, J A; Sellew, J F; Campbell, A E; Haskell, E G; Gay, A A; Bell, B J

1988-07-01

In the spring of 1987, 20 medical students from the Eastern Virginia Medical School of the Medical College of Hampton Roads were involved in a pilot program to teach about the acquired immune deficiency syndrome (AIDS) to high school senior students in Norfolk, Virginia. The medical students received instruction about AIDS from basic science and clinical faculty members at the medical school in preparation for the project. All participating high school seniors completed a 15-item knowledge test about AIDS prior to the intervention and an equivalent posttest one week after the program was completed. T-test analysis revealed a significant increase in knowledge by students at all five high schools. Responses to 10 subjective posttest questions indicated that the high school students were interested in learning about AIDS and having medical students as their teachers. This program provides an example of how medical institutions can develop a collaborative community education project that contributes to the education of medical students.

Hemophagocytic lymphohistiocytosis (HLH) secondary to disseminated histoplasmosis in the setting of Acquired Immunodeficiency Syndrome (AIDS).

PubMed

Asanad, Samuel; Cerk, Brendan; Ramirez, Veronica

2018-06-01

Hemophagocytic lymphohistiocytosis (HLH) is a rare and aggressive disease involving immune system over-activation leading to hemophagocytosis. HLH requires early diagnosis and prompt treatment initiation, especially in patients with Acquired Immunodeficiency Syndrome (AIDS). We present a case of a middle-aged male with AIDS and renal failure, who developed HLH secondary to disseminated histoplasmosis. Etoposide chemotherapy as recommended by the HLH 2004 Guidelines was deferred and treatment focused instead on anti-fungal therapy. Anti-retroviral therapy followed thereafter.

Resilience and vulnerability: prolonged grief in the bereaved spouses of marital partners who died of AIDS.

PubMed

Yu, Nancy Xiaonan; Chan, Cecilia L W; Zhang, Jianxin; Stewart, Sunita M

2016-01-01

Spousal bereavement is closely linked to prolonged grief, that is, significant adjustment symptoms that last for more than six months after the loss. This article focused on potential risk and protective factors that may influence bereavement outcomes. Participants in this study were surviving spouses of individuals who died of acquired immune deficiency syndrome (AIDS). These participants were themselves living with human immunodeficiency syndrome. In this cross-sectional study, 120 bereaved participants completed measures of grief, quality of dying and death of the deceased, negative conceptions of death resulting from AIDS, death attitudes, and personal resilience. The results showed that one-third (35.0%) of the bereaved participants reported grief levels above the prolonged grief cut-off scores, and can be categorized as the "prolonged grief" group. Although quality of dying and death was not associated with the intensity of grief, negative conceptions of death from AIDS, fear of death and resilience independently predicted grief symptoms in the regression models. Our findings provide insight into the grief process for the surviving spouse of AIDS victims in rural China. Since resilience is malleable, developing resilience interventions to enhance adjustment to bereavement may be a promising direction in grief counselling and therapies.

HIV/AIDS information by African companies: an empirical analysis.

PubMed

Barako, Dulacha G; Taplin, Ross H; Brown, Alistair M

2010-01-01

This article investigates the extent of Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome Disclosures (HIV/AIDSD) in online annual reports by 200 listed companies from 10 African countries for the year ending 2006. Descriptive statistics reveal a very low level of overall HIV/AIDSD practices with a mean of 6 per cent disclosure, with half (100 out of 200) of the African companies making no disclosures at all. Logistic regression analysis reveals that company size and country are highly significant predictors of any disclosure of HIV/AIDS in annual reports. Profitability is also statistically significantly associated with the extent of disclosure.

How to develop a company AIDS policy.

PubMed

Bompey, S H

1986-07-01

It is for most businesses only a matter of time before they will have experience with Acquired Immune Deficiency Syndrome (AIDS), and the experience could be very costly for companies which fail to implement an effective AIDS policy. Potential AIDS problems include: antidiscrimination suits based on firing or failing to hire an individual who had AIDS or carries the AIDS virus antibodies; defamation suits from employees who are wrongly identified; disability claims that do not fit the pattern for other diseases; civil rights penalties in some situations when AIDS victims are prevented from working; and run-ins with the Occupational Safety and Health Administration or the National Labor Relations Board if healthy workers refuse to work alongside AIDS victims. A company needs to think through its AIDS policy, but that does not mean establishing a "special" AIDS policy which may create paranoia among employees. The best approach is to develop a health policy that includes all catastrophic illnesses, not just AIDS. There have been few court decisions involving AIDS because AIDS is a recent illness, victims often do not live long enough to pursue the matter, and it often pays to settle AIDS cases out of court. Employers need to know that judges, administrative agencies, and arbitrators take the position that AIDS is a disability. As such, AIDS is treated under the anti-handicap discrimination laws on the books of most states. Additionally, the Federal Rehabilitation Act of 1973 prohibits discrimination against the disabled by companies that contract with the federal government or receive federal financial assistance. It usually is illegal to discriminate against the disabled workers, and in some states against workers who are perceived to have a disability. The best defense against the fear of working alongside and AIDs sufferer is education.

Polymorphous hemangioendothelioma in a child with acquired immunodeficiency syndrome (AIDS).

PubMed

Paul, Stephan R; Hurford, Matthew T; Miettinen, Markku M; Aronoff, Stephen C; Delvecchio, Michael; Grewal, Harsh; Tuluc, Madalina

2008-03-01

Polymorphous hemangioendotheliomas (PH) are rare and borderline malignant tumors that are among the wide range of vascular tumors. We report here a 13-year-old male presenting with a history of weight loss, opportunistic infections, and lymphadenopathy. He was determined to be HIV positive and to have acquired immunodeficiency syndrome (AIDS). A biopsy of a femoral node was diagnostic of PH. His systemic lymphadenopathy appeared to resolve with anti-retroviral therapy. This tumor should be considered within the differential diagnoses of pediatric and immunocompromised patients. (c) 2007 Wiley-Liss, Inc.

Brain and behavioral pathology in an animal model of Wernicke's encephalopathy and Wernicke-Korsakoff Syndrome.

PubMed

Vetreno, Ryan P; Ramos, Raddy L; Anzalone, Steven; Savage, Lisa M

2012-02-03

Animal models provide the opportunity for in-depth and experimental investigation into the anatomical and physiological underpinnings of human neurological disorders. Rodent models of thiamine deficiency have yielded significant insight into the structural, neurochemical and cognitive deficits associated with thiamine deficiency as well as proven useful toward greater understanding of memory function in the intact brain. In this review, we discuss the anatomical, neurochemical and behavioral changes that occur during the acute and chronic phases of thiamine deficiency and describe how rodent models of Wernicke-Korsakoff Syndrome aid in developing a more detailed picture of brain structures involved in learning and memory. Copyright © 2011 Elsevier B.V. All rights reserved.

CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.

PubMed

Kosho, Tomoki

2016-02-01

Carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase-1 (CHST14/D4ST1) deficiency represents a specific form of Ehlers-Danlos syndrome (EDS) caused by recessive loss-of-function mutations in CHST14. The disorder has been independently termed "adducted thumb-clubfoot syndrome", "EDS, Kosho type", and "EDS, musculocontractural type". To date, 31 affected patients from 21 families have been described. Clinically, CHST14/D4ST1 deficiency is characterized by multiple congenital malformations (craniofacial features including large fontanelle, hypertelorism, short and downslanting palpebral fissures, blue sclerae, short nose with hypoplastic columella, low-set and rotated ears, high palate, long philtrum, thin upper lip vermilion, small mouth, and micro-retrognathia; multiple congenital contractures including adduction-flexion contractures and talipes equinovarus as well as other visceral or ophthalmological malformations) and progressive multisystem fragility-related complications (skin hyperextensibility, bruisability, and fragility with atrophic scars; recurrent dislocations; progressive talipes or spinal deformities; pneumothorax or pneumohemothorax; large subcutaneous hematomas; and diverticular perforation). Etiologically, multisystem fragility is presumably caused by impaired assembly of collagen fibrils resulting from loss of dermatan sulfate (DS) in the decorin glycosaminoglycan side chain that promotes electrostatic binding between collagen fibrils. This is the first reported human disorder that specifically affects biosynthesis of DS. Its clinical characteristics indicate that CHST14/D4ST1 and, more fundamentally, DS, play a critical role in fetal development and maintenance of connective tissues in multiple organs. Considering that patients with CHST14/D4ST1 deficiency develop progressive multisystem fragility-related manifestations, establishment of a comprehensive and detailed natural history and health-care guidelines as well as further elucidation

Diabetic retinopathy in two patients with congenital IGF-I deficiency (Laron syndrome).

PubMed

Laron, Zvi; Weinberger, Dov

2004-07-01

Animal and clinical studies have shown that excessive amounts of growth hormone or insulin-like growth factor-I (IGF-I) promote the development of diabetes and diabetic retinopathy. Forthwith, we present two patients with congenital IGF-I deficiency who developed type II diabetes and subsequently retinopathy. Eighteen adult patients with classical Laron syndrome (8 males, 10 females, aged 20-62 years) were followed by us since childhood or underwent fundus photography with a Nikon NF 505 instrument. Three had been treated in childhood with IGF-I, the rest were never treated, including the two patients reported. Two never-treated patients were diagnosed with type II diabetes (DM) at ages 39 and 41 respectively. There was no diabetes in the families. Oral treatment was followed by insulin injections. Metabolic control was not optimal and one patient developed proliferative diabetic retinopathy, necessitating laser surgery. He also has nephropathy and severe neuropathy. The other patient has background diabetic retinopathy and has developed, progressively, exudates, microaneurisms, hemorrhages and clinically significant macular edema. He also has subacute ischemic heart disease. Our findings show that congenital IGF-I deficiency, similar to excess, causes vascular complications of DM, denoting also that vascular endothelial growth factor can induce neovascularization in the presence of congenital IGF-I deficiency.

Psychological distress amongst AIDS-orphaned children in urban South Africa.

PubMed

Cluver, Lucie; Gardner, Frances; Operario, Don

2007-08-01

South Africa is predicted to have 2.3 million children orphaned by Acquired Immune Deficiency Syndrome (AIDS) by 2020 (Actuarial Society of South Africa, 2005). There is little knowledge about impacts of AIDS-related bereavement on children, to aid planning of services. This study aimed to investigate psychological consequences of AIDS orphanhood in urban township areas of Cape Town, South Africa, compared to control groups of children and adolescents orphaned by other causes, and non-orphans. One thousand and twenty-five children and adolescents (aged 10-19) were interviewed using socio-demographic questionnaires and standardised scales for assessing depression, anxiety, post-traumatic stress, peer problems, delinquency and conduct problems. Controlling for socio-demographic factors such as age, gender, formal/informal dwelling and age at orphanhood, children orphaned by AIDS were more likely to report symptoms of depression, peer relationship problems, post-traumatic stress, delinquency and conduct problems than both children orphaned by other causes and non-orphaned children. Anxiety showed no differences. AIDS-orphaned children were more likely to report suicidal ideation. Compared to Western norms, AIDS-orphaned children showed higher levels of internalising problems and delinquency, but lower levels of conduct problems. Children orphaned by AIDS may be a particularly vulnerable group in terms of emotional and, to a lesser extent, behavioural problems. Intervention programs are necessary to ameliorate the psychological sequelae of losing a parent to AIDS.

Serum antibody-negative Goodpasture syndrome with delta granule pool storage deficiency and eosinophilia

PubMed Central

Kussman, Ashleigh; Gohara, Amira

2012-01-01

Goodpasture syndrome is a rare, life-threatening autoimmune disease characterized by a triad of rapidly progressive glomerulonephritis, a hemorrhagic pulmonary condition and the presence of anti-glomerular basement membrane (anti-GBM) antibodies. The antibodies initiate destruction of the kidney glomeruli, resulting in a focal necrotizing glomerulitis, which may progress rapidly to renal failure. Autoantibody-mediated damage of alveolar basement membranes leads to diffuse pulmonary hemorrhage, which in some cases may be severe enough to cause respiratory failure. Many clinicians use a variety of assays to detect serum anti-GBM antibodies; however, these tests may be falsely negative in up to 15% of patients with Goodpasture syndrome. Here, we report an unusual case of a 40-year-old man with clinical evidence of Goodpasture syndrome, a negative anti-GBM antibody serum result, eosinophilia and delta granule pool storage deficiency. After a 14-day hospital stay and extensive workup, as well as treatment with antibiotics, steroids and ventilator support for respiratory failure, the patient continued to deteriorate and entered multisystem organ failure. The family decided to withdraw ventilator support, and the patient expired. Immunofluorescence testing for anti-GBM autoantibodies on lung and kidney tissues during an autopsy confirmed the diagnosis of Goodpasture syndrome. PMID:26069804

Serum antibody-negative Goodpasture syndrome with delta granule pool storage deficiency and eosinophilia.

PubMed

Kussman, Ashleigh; Gohara, Amira

2012-12-01

Goodpasture syndrome is a rare, life-threatening autoimmune disease characterized by a triad of rapidly progressive glomerulonephritis, a hemorrhagic pulmonary condition and the presence of anti-glomerular basement membrane (anti-GBM) antibodies. The antibodies initiate destruction of the kidney glomeruli, resulting in a focal necrotizing glomerulitis, which may progress rapidly to renal failure. Autoantibody-mediated damage of alveolar basement membranes leads to diffuse pulmonary hemorrhage, which in some cases may be severe enough to cause respiratory failure. Many clinicians use a variety of assays to detect serum anti-GBM antibodies; however, these tests may be falsely negative in up to 15% of patients with Goodpasture syndrome. Here, we report an unusual case of a 40-year-old man with clinical evidence of Goodpasture syndrome, a negative anti-GBM antibody serum result, eosinophilia and delta granule pool storage deficiency. After a 14-day hospital stay and extensive workup, as well as treatment with antibiotics, steroids and ventilator support for respiratory failure, the patient continued to deteriorate and entered multisystem organ failure. The family decided to withdraw ventilator support, and the patient expired. Immunofluorescence testing for anti-GBM autoantibodies on lung and kidney tissues during an autopsy confirmed the diagnosis of Goodpasture syndrome.

Stigma and discrimination within the Ethiopian health care settings: Views of inpatients living with human immunodeficiency virus and acquired immune deficiency syndrome.

PubMed

Wodajo, Befekadu S; Thupayagale-Tshweneagae, Gloria; Akpor, Oluwaseyi A

2017-07-31

Stigma and discrimination attached to human immunodeficiency virus (HIV) and acquired immune deficiency syndrome (AIDS) have been recognised as a major obstacle to HIV prevention, treatment, care and support throughout the world. Stigma and discrimination are more devastating when they occur in health care settings where it is least expected. To explore the factors attributable to stigma and discrimination of people living with HIV in two Ethiopian rural hospitals on what they thought of health care professionals (HCPs) attending to them. A qualitative exploratory approach was used. Data collection was by means of audio-taped interview and Tesch's content analysis approach was used. The sample size for this study was determined by saturation of data and consisted of 16 participants who were people living with HIV admitted as inpatients to the two selected hospitals in Amhara region of Ethiopia. Participants' views were grouped into: fear of contact, delay of services, substandard services, denial of care, impoliteness of health care providers, breach of confidentiality and poor patient follow-up for persons infected with HIV. The health care settings have been recognised as one of the contexts where HIV and AIDS-related stigmatisation and discrimination can occur. Hospital policies and institutional support should be tailored to embrace people living with HIV as the provision of institutional support is imperative in creating a good working environment and improving the commitment of HCPs so as to enable them to provide holistic care for people living with HIV and AIDS (PLWHA) without discrimination.

The use of computer-aided design/manufacturing (CAD/CAM) technology to aid in the reconstruction of congenitally deficient pediatric mandibles: A case series.

PubMed

Gougoutas, Alexander J; Bastidas, Nicholas; Bartlett, Scott P; Jackson, Oksana

2015-12-01

Microvascular reconstruction of the pediatric mandible, particularly when necessitated by severe, congenital hypoplasia, presents a formidable challenge. Complex cases, however, may be simplified by computer-aided design/computer-aided manufacturing (CAD/CAM) assisted surgical planning. This series represents the senior authors' preliminary experiences with CAD/CAM assisted, microvascular reconstruction of the pediatric mandible. Presented are two patients with hemifacial/bifacial microsomia, both with profound mandibular hypoplasia, who underwent CAD/CAM assisted reconstruction of their mandibles with vascularized fibula flaps. Surgical techniques, CAD/CAM routines employed, complications, and long-term outcomes are reported. Successful mandibular reconstructions were achieved in both patients with centralization of their native mandibles and augmentation of deficient mandibular subunits. No long-term complications were observed. CAD/CAM technology can be utilized in pediatric mandibular reconstruction, and is particularly beneficial in cases of profound, congenital hypoplasia requiring extensive, multi-planar, bony reconstructions. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Brain and Behavioral Pathology in an Animal Model of Wernicke’s Encephalopathy and Wernicke-Korsakoff Syndrome

PubMed Central

Vetreno, Ryan P.; Ramos, Raddy L.; Anzalone, Steven; Savage, Lisa M.

2012-01-01

Animal models provide the opportunity for in-depth and experimental investigation into the anatomical and physiological underpinnings of human neurological disorders. Rodent models of thiamine deficiency have yielded significant insight into the structural, neurochemical and cognitive deficits associated with thiamine deficiency as well as proven useful toward greater understanding of memory function in the intact brain. In this review, we discuss the anatomical, neurochemical and behavioral changes that occur during the acute and chronic phases of thiamine deficiency and describe how rodent models of Wernicke-Korsakoff Syndrome aid in developing a more detailed picture of brain structures involved in learning and memory. PMID:22192411

[Spontaneous course of LAV/HTLV-III infection. Follow-up of persons from AIDS-risk groups].

PubMed

Brodt, H R; Helm, E B; Werner, A; Joetten, A; Bergmann, L; Klüver, A; Stille, W

1986-08-01

543 persons in AIDS risk groups were examined for LAV/HTLV-III infection. Antibodies against LAV/HTLV-III were demonstrated in 377, during an observation period of 3 months to 3 years. Patients were divided into 5 groups, according to clinical, serological and immunological criteria. Severity of symptoms and incidence of recurrences of the lymphadenopathy syndrome correlated positively with an increase in cellular immune deficiency. At the end of the observation period only 30 of 307 antibody-positive patients were well. The AIDS incidence of all antibody-positive patients increased with time from 3% (6-11 months) to 19.4% (24-36 months). If one takes into account only those patients who had marked immune deficiency (stage 2b) at the initial examination, the AIDS incidence during the same periods was 10 and 57%, respectively. At the same time, the condition worsened by at least one stage in half of all patients in stages 1b-2a observed for 1-2 years. A change of stage was observed in up to 80% of patients followed for longer periods. Long-time prognosis of LAV/HTLV-III infection is remarkably bad.

AIDS and its effects on the advancement of women.

PubMed

1989-01-01

This document gives an overview of the worldwide spread of acquired immune deficiency syndrome (AIDS), the means of its prevention, and its effects on women who are not infected. It also explains how the AIDS virus is not spread, and why it is important not to be afraid of those infected with the AIDS virus. It stresses the need for information at a time when a vaccine or cure are not yet available, and education is the only means of prevention. The global mobilization being conducted to fight the AIDS crisis is discussed. Different ways in which women are at risk to infection by the HIV virus are reviewed, especially the subordination of women. This denies them the same education, legal rights, training, health, and independent incomes, all of which reduces their chance for access to information about AIDS. It considers risk of being infected by a partner, from a blood transfusion, increased susceptibility in someone who already has a sexually transmitted disease, increased susceptibility in a woman who has been circumcised, risk of infection from rape, and how women are coerced into prostitution, putting them at risk for AIDS. It also covers HIV infection and contraception, the danger to professional health-care workers, transmission of HIV infection from mother-to-infant, and discrimination that is AIDS-related. Women who are not infected are impacted by AIDS because they suffer stress as caretakers. The document also discusses the social and economic consequences of AIDS.

[Graves disease and IgA deficiency as manifestations of 22q11.2 deletion syndrome].

PubMed

Silva, João Miguel de Almeida; Silva, Cecília Pereira; Melo, Flavio Fernando Nogueira de; Silva, Luis Alberto A; Utagawa, Claudia Yamada

2010-08-01

The 22q11.2 deletion syndrome (22q11.2DS) is related to a high phenotypic variability including the velocardiofacial/DiGeorge spectrum. Autoimmune, endocrine and immunodeficiency manifestations have been reportedly associated with the syndrome. The objective of this study was to report a case of 22q11.2DS associated with IgA deficiency and Graves disease and review literature in order to verify the frequency of syndrome alterations. Autoimmune disorders have been increasingly related to 22q11.2DS, and new phenotypes are being incorporated in the clinical spectrum of this syndrome. In our study we found that Graves disease in association with 22q11.2DS was reported in only sixteen patients, and fifteen cases were described in the last 13 years. Based on the incidence and on the amplitude of this recognized spectrum, we reinforce the findings of literature that Graves disease should be included on the 22q11.2DS manifestations, which would lead us to seek it with 22q11.2 deletion patients.

Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome.

PubMed

Cariboni, Anna; André, Valentina; Chauvet, Sophie; Cassatella, Daniele; Davidson, Kathryn; Caramello, Alessia; Fantin, Alessandro; Bouloux, Pierre; Mann, Fanny; Ruhrberg, Christiana

2015-06-01

Individuals with an inherited deficiency in gonadotropin-releasing hormone (GnRH) have impaired sexual reproduction. Previous genetic linkage studies and sequencing of plausible gene candidates have identified mutations associated with inherited GnRH deficiency, but the small number of affected families and limited success in validating candidates have impeded genetic diagnoses for most patients. Using a combination of exome sequencing and computational modeling, we have identified a shared point mutation in semaphorin 3E (SEMA3E) in 2 brothers with Kallmann syndrome (KS), which causes inherited GnRH deficiency. Recombinant wild-type SEMA3E protected maturing GnRH neurons from cell death by triggering a plexin D1-dependent (PLXND1-dependent) activation of PI3K-mediated survival signaling. In contrast, recombinant SEMA3E carrying the KS-associated mutation did not protect GnRH neurons from death. In murine models, lack of either SEMA3E or PLXND1 increased apoptosis of GnRH neurons in the developing brain, reducing innervation of the adult median eminence by GnRH-positive neurites. GnRH neuron deficiency in male mice was accompanied by impaired testes growth, a characteristic feature of KS. Together, these results identify SEMA3E as an essential gene for GnRH neuron development, uncover a neurotrophic function for SEMA3E in the developing brain, and elucidate SEMA3E/PLXND1/PI3K signaling as a mechanism that prevents GnRH neuron deficiency.

Bayesian conditional-independence modeling of the AIDS epidemic in England and Wales

NASA Astrophysics Data System (ADS)

Gilks, Walter R.; De Angelis, Daniela; Day, Nicholas E.

We describe the use of conditional-independence modeling, Bayesian inference and Markov chain Monte Carlo, to model and project the HIV-AIDS epidemic in homosexual/bisexual males in England and Wales. Complexity in this analysis arises through selectively missing data, indirectly observed underlying processes, and measurement error. Our emphasis is on presentation and discussion of the concepts, not on the technicalities of this analysis, which can be found elsewhere [D. De Angelis, W.R. Gilks, N.E. Day, Bayesian projection of the the acquired immune deficiency syndrome epidemic (with discussion), Applied Statistics, in press].

Perceived social support and psychosocial distress among children affected by AIDS in china.

PubMed

Hong, Yan; Li, Xiaoming; Fang, Xiaoyi; Zhao, Guoxiang; Lin, Xiuyun; Zhang, Jintao; Zhao, Junfeng; Zhang, Liying

2010-02-01

The psychosocial wellbeing of the children affected by Acquired Immune Deficiency Syndrome (AIDS) receives growing international attention. However, limited data in this area are available in China, which hosts an estimate of 100,000 AIDS-orphaned children. The study aims to examine the relationship between perceived social support (PSS) and psychosocial wellbeing among children affected by AIDS. A cross-sectional survey was administered to 1,625 children (aged 6-18 years) in Henan Province, an area with a large number of HIV cases due to unhygienic commercial blood/plasma collection. Our sample included 296 double orphans (i.e., children who lost both parents to AIDS), 459 single orphans (children who lost one parent to AIDS), 466 vulnerable children (children living with HIV-infected parents) and 404 comparison children (children who did not experience HIV-related illness and death in family). Data suggest that vulnerable children reported the lowest level of PSS compared to AIDS orphans and comparison children. Level of PSS was significantly and positively associated with psychosocial wellbeing even after controlling for potential confounders. The study underscores the importance of providing social support and mental health services for children affected by AIDS in China.

Refeeding syndrome.

PubMed

Fernández López, M T; López Otero, M J; Alvarez Vázquez, P; Arias Delgado, J; Varela Correa, J J

2009-01-01

Refeeding syndrome is a complex syndrome that occurs as a result of reintroducing nutrition (oral, enteral or parenteral) to patients who are starved or malnourished. Patients can develop fluid-balance abnormalities, electrolyte disorders (hypophosphataemia, hypokalaemia and hypomagnesaemia), abnormal glucose metabolism and certain vitamin deficiencies. Refeeding syndrome encompasses abnormalities affecting multiple organ systems, including neurological, pulmonary, cardiac, neuromuscular and haematological functions. Pathogenic mechanisms involved in the refeeding syndrome and clinical manifestations have been reviewed. We provide suggestions for the prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk, reintroduce nutrition cautiously and correct electrolyte and vitamin deficiencies properly.

A report of three cases of AIDS in Thailand.

PubMed

Phanuphak, P; Locharernkul, C; Panmuong, W; Wilde, H

1985-12-01

Acquired immune deficiency syndrome (AIDS) has been rarely reported as occurring primarily in Asia. We report here on first three cases of AIDS diagnosed at Chulalongkorn Hospital Medical School. One case was an American who had been in Thailand for two years; the other two were Thai. The American and one of the Thai patients were male homosexuals but they had no connection with one another. The latter Thai male homosexual had sexual contact with a German man who showed no evidence of the disease. The other Thai patients was the mistress of the male Thai patient, which underlies the importance of heterosexual transmission of the disease. The two male patients had opportunistic infections whereas the female patient had only generalised lymphadenopathy (Pre-AIDS). Delayed type hypersensitivity response, T-cell subsets enumeration and the in vitro T-cell mitogen response served as diagnostic tools when combined with the clinical history. The diagnosis was made even before the results of tests to determine the presence of antibodies to HTLV-III were known. The presence of anti-HTLV-III simply confirmed our diagnosis.

Gendered differences in AIDS and AIDS-related cause of death among youth with secondary education in South Africa, 2009–2011

PubMed Central

De Wet, Nicole

2016-01-01

Abstract Background: The prevalence of human immunodeficiency virus (HIV)/acquired immune deficiency syndrome (AIDS) is higher among females than males in Sub-Saharan Africa. Education is associated with better health outcomes. For this and other reasons, African countries have made a concerted effort to increase youth education rates. However, in South Africa males have lower secondary education rates than females, yet females have a higher prevalence of HIV/AIDS. This study examines if a gender disparity exists in AIDS mortality rates among youth with secondary education in South Africa. Methods: This study uses descriptive statistics and life table techniques. A sample of 4386 deaths of youth with secondary education is used. Of this total sample, 987 deaths were among males and 340 were among females with secondary education. Results: This study shows that AIDS mortality is higher among females than males in South Africa. Males and females with secondary education have lower AIDS mortality than all males and females in the population, yet the rates are higher for females. Using cause-deleted life tables, the probability of youth dying from HIV/AIDS practically disappears for both males and females. Odds ratio calculations show that secondary education does not have a protective effect from AIDS mortality among male and female youth. Conclusion: Given the gendered difference in AIDS mortality among youth with secondary education, efforts to increase secondary education among males and further research into other factors exacerbating AIDS mortality among females with secondary education is needed in the country. PMID:27739338

Adenosine receptors as markers of brain iron deficiency: Implications for Restless Legs Syndrome.

PubMed

Quiroz, César; Gulyani, Seema; Ruiqian, Wan; Bonaventura, Jordi; Cutler, Roy; Pearson, Virginia; Allen, Richard P; Earley, Christopher J; Mattson, Mark P; Ferré, Sergi

2016-12-01

Deficits of sensorimotor integration with periodic limb movements during sleep (PLMS) and hyperarousal and sleep disturbances in Restless Legs Syndrome (RLS) constitute two pathophysiologically distinct but interrelated clinical phenomena, which seem to depend mostly on alterations in dopaminergic and glutamatergic neurotransmission, respectively. Brain iron deficiency is considered as a main pathogenetic mechanism in RLS. Rodents with brain iron deficiency represent a valuable pathophysiological model of RLS, although they do not display motor disturbances. Nevertheless, they develop the main neurochemical dopaminergic changes found in RLS, such as decrease in striatal dopamine D 2 receptor density. On the other hand, brain iron deficient mice exhibit the characteristic pattern of hyperarousal in RLS, providing a tool to find the link between brain iron deficiency and sleep disturbances in RLS. The present study provides evidence for a role of the endogenous sleep-promoting factor adenosine. Three different experimental preparations, long-term (22 weeks) severe or moderate iron-deficient (ID) diets (3- or 7-ppm iron diet) in mice and short-term (3 weeks) severe ID diet (3-ppm iron diet) in rats, demonstrated a significant downregulation (Western blotting in mouse and radioligand binding saturation experiments in rat brain tissue) of adenosine A 1 receptors (A1R) in the cortex and striatum, concomitant to striatal D2R downregulation. On the other hand, the previously reported upregulation of adenosine A 2A receptors (A2AR) was only observed with severe ID in both mice and rats. The results suggest a key role for A1R downregulation in the PLMS and hyperarousal in RLS. Published by Elsevier Ltd.

Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome.

PubMed

Burnett, Lisa C; LeDuc, Charles A; Sulsona, Carlos R; Paull, Daniel; Rausch, Richard; Eddiry, Sanaa; Carli, Jayne F Martin; Morabito, Michael V; Skowronski, Alicja A; Hubner, Gabriela; Zimmer, Matthew; Wang, Liheng; Day, Robert; Levy, Brynn; Fennoy, Ilene; Dubern, Beatrice; Poitou, Christine; Clement, Karine; Butler, Merlin G; Rosenbaum, Michael; Salles, Jean Pierre; Tauber, Maithe; Driscoll, Daniel J; Egli, Dieter; Leibel, Rudolph L

2017-01-03

Prader-Willi syndrome (PWS) is caused by a loss of paternally expressed genes in an imprinted region of chromosome 15q. Among the canonical PWS phenotypes are hyperphagic obesity, central hypogonadism, and low growth hormone (GH). Rare microdeletions in PWS patients define a 91-kb minimum critical deletion region encompassing 3 genes, including the noncoding RNA gene SNORD116. Here, we found that protein and transcript levels of nescient helix loop helix 2 (NHLH2) and the prohormone convertase PC1 (encoded by PCSK1) were reduced in PWS patient induced pluripotent stem cell-derived (iPSC-derived) neurons. Moreover, Nhlh2 and Pcsk1 expression were reduced in hypothalami of fasted Snord116 paternal knockout (Snord116p-/m+) mice. Hypothalamic Agrp and Npy remained elevated following refeeding in association with relative hyperphagia in Snord116p-/m+ mice. Nhlh2-deficient mice display growth deficiencies as adolescents and hypogonadism, hyperphagia, and obesity as adults. Nhlh2 has also been shown to promote Pcsk1 expression. Humans and mice deficient in PC1 display hyperphagic obesity, hypogonadism, decreased GH, and hypoinsulinemic diabetes due to impaired prohormone processing. Here, we found that Snord116p-/m+ mice displayed in vivo functional defects in prohormone processing of proinsulin, pro-GH-releasing hormone, and proghrelin in association with reductions in islet, hypothalamic, and stomach PC1 content. Our findings suggest that the major neuroendocrine features of PWS are due to PC1 deficiency.

Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome

PubMed Central

Burnett, Lisa C.; LeDuc, Charles A.; Sulsona, Carlos R.; Paull, Daniel; Rausch, Richard; Eddiry, Sanaa; Carli, Jayne F. Martin; Morabito, Michael V.; Skowronski, Alicja A.; Hubner, Gabriela; Zimmer, Matthew; Wang, Liheng; Day, Robert; Levy, Brynn; Dubern, Beatrice; Poitou, Christine; Clement, Karine; Rosenbaum, Michael; Salles, Jean Pierre; Tauber, Maithe; Egli, Dieter

2016-01-01

Prader-Willi syndrome (PWS) is caused by a loss of paternally expressed genes in an imprinted region of chromosome 15q. Among the canonical PWS phenotypes are hyperphagic obesity, central hypogonadism, and low growth hormone (GH). Rare microdeletions in PWS patients define a 91-kb minimum critical deletion region encompassing 3 genes, including the noncoding RNA gene SNORD116. Here, we found that protein and transcript levels of nescient helix loop helix 2 (NHLH2) and the prohormone convertase PC1 (encoded by PCSK1) were reduced in PWS patient induced pluripotent stem cell–derived (iPSC-derived) neurons. Moreover, Nhlh2 and Pcsk1 expression were reduced in hypothalami of fasted Snord116 paternal knockout (Snord116p–/m+) mice. Hypothalamic Agrp and Npy remained elevated following refeeding in association with relative hyperphagia in Snord116p–/m+ mice. Nhlh2-deficient mice display growth deficiencies as adolescents and hypogonadism, hyperphagia, and obesity as adults. Nhlh2 has also been shown to promote Pcsk1 expression. Humans and mice deficient in PC1 display hyperphagic obesity, hypogonadism, decreased GH, and hypoinsulinemic diabetes due to impaired prohormone processing. Here, we found that Snord116p–/m+ mice displayed in vivo functional defects in prohormone processing of proinsulin, pro-GH–releasing hormone, and proghrelin in association with reductions in islet, hypothalamic, and stomach PC1 content. Our findings suggest that the major neuroendocrine features of PWS are due to PC1 deficiency. PMID:27941249

Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome.

PubMed

Ostergaard, Elsebet; Rodenburg, Richard J; van den Brand, Mariël; Thomsen, Lise Lykke; Duno, Morten; Batbayli, Mustafa; Wibrand, Flemming; Nijtmans, Leo

2011-11-01

This study investigated a girl with Leigh syndrome born to first-cousin parents of Pakistani descent with an isolated respiratory chain complex I deficiency in muscle and fibroblasts. Her early development was delayed, and from age 2 years she started losing motor abilities. Cerebral MRI showed basal ganglia lesions typical of Leigh syndrome. A genome-wide search for homozygosity was performed with the Affymetrix GeneChip 50K Xba array. The analysis revealed several homozygous regions. Three candidate genes were identified, and in one of the genes, NDUFA12, a homozygous c.178C→T mutation leading to a premature stop codon (p.Arg60X) was found. Western blot analysis showed absence of NDUFA12 protein in patient fibroblasts and functional complementation by a baculovirus system showed restoration of complex I activity. NDUFA12 mutations are apparently not a frequent cause of complex I deficiency, since mutations were not found by screening altogether 122 complex I deficient patients in two different studies. NDUFA12 encodes an accessory subunit of complex I and is a paralogue of NDUFAF2. Despite the complete absence of NDUFA12 protein, a fully assembled and enzymatically active complex I could be found, albeit in reduced amounts. This suggests that NDUFA12 is required either at a late step in the assembly of complex I, or in the stability of complex I.

Serum Protein KNG1, APOC3, and PON1 as Potential Biomarkers for Yin-Deficiency-Heat Syndrome.

PubMed

Liu, Changming; Mao, Liangen; Ping, Zepeng; Jiang, Tingting; Wang, Chong; Chen, Zhongliang; Li, Zhongjie; Li, Jicheng

2016-01-01

Yin-deficiency-heat (YDH) syndrome is a concept in Traditional Chinese Medicine (TCM) for describing subhealth status. However, there are few efficient diagnostic methods available for confirming YDH syndrome. To explore the novel method for diagnosing YDH syndrome, we applied iTRAQ to observe the serum protein profiles in YDH syndrome rats and confirmed protein levels by ELISA. A total of 92 differentially expressed proteins (63 upregulated proteins and 29 downregulated proteins), which were mainly involved in complement and coagulation cascades and glucose metabolism pathway, were identified by the proteomic experiments. Kininogen 1 (KNG1) was significantly increased ( p < 0.0001), while apolipoprotein C-III (APOC3, p < 0.005) and paraoxonase 1 (PON1, p < 0.001) were significantly decreased in the serum of YDH syndrome rats. The combination of KNG1, APOC3, and PON1 constituted a diagnostic model with 100.0% sensitivity and 85.0% specificity. The results indicated that KNG1, APOC3, and PON1 may act as potential biomarkers for diagnosing YDH syndrome. KNG1 may regulate cytokines and chemokines release in YDH syndrome, and the low levels of PON1 and APOC3 may increase oxidative stress and lipolysis in YDH syndrome, respectively. Our work provides a novel method for YDH syndrome diagnosis and also provides valuable experimental basis to understand the molecular mechanism of YDH syndrome.

Does an electronic cognitive aid have an effect on the management of severe gynaecological TURP syndrome? A prospective, randomised simulation study.

PubMed

St Pierre, Michael; Breuer, Georg; Strembski, Dieter; Schmitt, Christopher; Luetcke, Bjoern

2017-05-30

Lack of familiarity with the content of current guidelines is a major factor associated with non-compliance by clinicians. It is conceivable that cognitive aids with regularly updated medical content can guide clinicians' task performance by evidence-based practices, even if they are unfamiliar with the actual guideline. Acute hyponatraemia as a consequence of TURP syndrome is a rare intraoperative event, and current practice guidelines have changed from slow correction to rapid correction of serum sodium levels. The primary objective of this study was to compare the management of a simulated severe gynaecological transurethral resection of the prostate (TURP) syndrome under spinal anaesthesia with either: an electronic cognitive aid, or with management from memory alone. The secondary objective was to assess the clinical relevance and participant perception of the usefulness of the cognitive aid. Anaesthetic teams were allocated to control (no cognitive aid; n = 10) or intervention (cognitive aid provided; n = 10) groups. We identified eight evidence-based management tasks for severe TURP syndrome from current guidelines and subdivided them into acute heart failure (AHF)/pulmonary oedema tasks (5) and acute hyponatraemia tasks (3). Implementation of the treatment steps was measured by scoring task items in a binary fashion (yes/no). To assess whether or not the cognitive aid had prompted a treatment step, participants from the cognitive aid group were questioned during debriefing on every single treatment step. At the end of the simulation, session participants were asked to complete a survey. Teams in the cognitive aid group considered evidence-based treatment steps significantly more often than teams of the control group (96% vs. 50% for 'AHF/pulmonary oedema' p < 0.001; 79% vs. 12% for 'acute hyponatraemia' p < 0.001). Without the cognitive aid, performance would have been comparable across both groups. Nurses, trainees, and consultants derived equal

Study of Knowledge, Attitudes, Perceptions and Beliefs Regarding HIV and AIDS (KAPB). Memorandum Presented to the Directorate Primary Health Care of the Department of National Health and Population Development.

ERIC Educational Resources Information Center

Du Plessis, G. E.; And Others

This document reports on a study that assessed levels of knowledge, types of attitudes, perceptions, and beliefs (KAPB) of the general South African public regarding Human Immunodeficiency Virus (HIV) infection and Acquired Immune Deficiency Syndrome (AIDS). Interviews were conducted with 5,360 participants; survey data are summarized in 49…

Securitizing HIV/AIDS: a game changer in state-societal relations in China?

PubMed

Lo, Catherine Yuk-Ping

2018-05-16

China has experienced unprecedented economic growth since the 1980s. Despite this impressive economic development, this growth exists side by side with the human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS) and severe acute respiratory syndrome (SARS) crises and the persisting deficiencies in public health provision in China. Acknowledging the prevailing health problems, the Chinese government has encouraged the development of health non-governmental organizations (NGOs) to respond to the health challenges and address the gaps in public health provision of the government. HIV/AIDS-focused NGOs have been perceived as the most outstanding civil society group developed in China. Considering the low priority of health policies since the economic reform, the limitation of the "third sector" activity permitted in authoritarian China, together with the political sensitivity of the HIV/AIDS problem in the country, this article aims to explain the proliferation of HIV/AIDS-focused NGOs in China with the usage of the securitization framework in the field of international relations (IR). The research that underpins this article is based on a desk-based literature review as well as in-depth field interviews with individuals working in HIV/AIDS-focused NGOs in China. Face-to-face interviews for this research were conducted between January and May in 2011, and between December 2016 and January 2017, in China. Discourse analysis was in particular employed in the study of the security-threat framing process (securitization) of HIV/AIDS in China. This article argues that the proliferation of HIV/AIDS-related NGOs in China is largely attributed to the normative and technical effects of HIV/AIDS securitization ushered in by the United Nations Security Council (UNSC) and supported by the Global Fund to Fight AIDS, Tuberculosis, and Malaria (hereinafter Global Fund) observed in China. Despite depicting a positive scenario, the development of HIV/AIDS

Prolonged QT Syndrome and Seizure Secondary to Alkaline Earth Metal Deficiency: A Case Report.

PubMed

McKinney, A; Keegan, B C

2011-01-01

Introduction. Alkaline earth metal deficiency is recognized as a cause of both seizure and long QT syndrome. Their deficiency can have significant repercussions on the function of cells, tissues, and organs of the body. An understanding of the role of electrolytes allows an appreciation of the significance of depleted levels on cell function. Case Report. A 65-year-old lady was admitted with symptoms of chest discomfort, vomiting, increased stoma output, and dizziness. Two days following admission she suffered a tonic-clonic seizure. ECG review demonstrated a prolonged QTc interval, raising the possibility of an underlying Torsades de Pointes as the precipitant. This was attributed to electrolyte disturbance arising as a result of multiple aetiologies. Discussion. This paper highlights the multisystem effects of electrolyte disturbance, with emphasis upon its role in precipitating cardiac arrhythmia and neurological symptoms.

Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.

PubMed

Clark, Joseph F; Cecil, Kim M

2015-03-01

Primary care pediatricians and a variety of specialist physicians strive to define an accurate diagnosis for children presenting with impairment of expressive speech and delay in achieving developmental milestones. Within the past two decades, a group of disorders featuring this presentation have been identified as cerebral creatine deficiency syndromes (CCDS). Patients with these disorders were initially discerned using proton magnetic resonance spectroscopy of the brain within a magnetic resonance imaging (MRI) examination. The objective of this review is to provide the clinician with an overview of the current information available on identifying and treating these conditions. We explain the salient features of creatine metabolism, synthesis, and transport required for normal development. We propose diagnostic approaches for confirming a CCDS diagnosis. Finally, we describe treatment approaches for managing patients with these conditions.

A survey of children affected by ectomermal dysplasia syndromes shows an increased prevalence of atopic disorders and immune deficiency

USDA-ARS?s Scientific Manuscript database

Ectodermal dysplasia (ED) syndromes are rare genetic disorders that affect the development of tissues derived from the embryonic ectoderm. Studies and anecdotal experience have indicated that atopic disorders (AD) and immune deficiencies (ID) may be associated with ED in children. Some ED genotypes ...

A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome

DOE Office of Scientific and Technical Information (OSTI.GOV)

Tsigos, C.; Arai, K.; Latronico, A.C.

1995-07-01

Isolated glucocorticoid deficiency (IGD) is an autosomal recessive disorder characterized by primary adrenocortical insufficiency, usually without mineralocorticoid deficiency. Occasionally, the disorder is associated with alacrima and achalasia of the esophagus (triple A syndrome), suggesting potential heterogeneity in its etiology. Mutations in the ACTH receptor gene have been reported in several families with IGD. We have amplified and directly sequenced the entire intronless ACTH receptor gene in 1 other family with IGD and 2 famlies with triple A syndrome. The proband with IGD was a homozygote for an A {r_arrow}G substitution, changing tyrosine 254 to cysteine in the third extracellular loopmore » of the receptor protein, probably interfering with ligand binding. Both of her parents were heterozygotes for this mutation, which was not detected in 100 normal alleles. No mutations were identified in the entire coding area of the ACTH receptor in the 2 families with triple A syndrome, supporting the idea of a developmental or postreceptor defect in this syndrome. 19 refs., 1 fig.« less

[Study on the relation between Pi-deficiency pattern and metabolic syndrome in patients with polycystic ovarian syndrome].

PubMed

Wang, Xing-Juan; Jin, Hua-Liang; Liu, Ying

2010-11-01

To evaluate the relation between Pi-deficiency syndrome (PDS) pattern and metabolic syndrome (MS) in patients with polycystic ovarian syndrome (PCOS), for exploring their internal pathologic mechanism. Among the 102 PCOS patients, 22 complicated with MS (PCOS-MS) and 80 not complicated with MS (PCOS-NMS), the Chinese medicine syndrome pattern was differentiated as PDS in 50 patients and non-PDS in 52. The clinical data, in terms of fasting blood glucose (FBG), fasting insulin (FINS), waistline, body weight (BW), stature, blood pressure (BP), etc. was collected and compared and the relation between data was analyzed. Levels of FINS and homeostasis model of assessment for insulin resistence index (HOMA-IR), in PCOS-MS patients were significantly higher than those in PCOS-NMS patients, also higher in patients of PDS pattern than those of non-PDS pattern (P < 0.01); the occurrences of MS and PDS were highly positively correlated with levels of FINS and HOMA-IR (P < 0.01); incidence of MS in patients of PDS pattern was significantly higher than those in patients of non-PDS pattern (P < 0.05); presenting of PDS was positively related with the existence of MS (P < 0.05), but in case of the FINS or HOMA-IR factor being controlled, statistical meaning of the relativity between them turned to insignificant (P > 0.05). PCOS patients of PDS pattern are the high-risk population of MS, which might be related with the insulin resistance. So, early treatment of PCOS, especially on patients of PDS pattern, is of important significance for preventing the complication, as MS, of the disease.

[A case of Leigh syndrome associated with respiratory chain complex I deficiency due to mitochondrial gene 13513G>A mutation].

PubMed

Wei, Xiao-Qiong; Kong, Qing-Peng; Zhang, Yao; Yang, Yan-Ling; Chang, Xing-Zhi; Qi, Yu; Qi, Zhao-Yue; Xiao, Jiang-Xi; Qin, Jiong; Wu, Xi-Ru

2009-05-01

Leigh syndrome is a genetically heterogeneous disease caused by defects in enzymes involved in aerobic energy metabolism and the Krebs', cycle. Mitonchondrial complex I deficiency is a main cause of Leigh syndrome. In this study, a Chinese child with Leigh syndrome caused by 13513G>A mutation was reported. The proband was the first child of his parents. The previously healthy boy presented with generalized epilepsy at 12 years of age. When he visited Peking University First Hospital at 13 years of age, he had subacute loss of vision in two eyes and temporal defect of visual field in the left eye. He walked with a spastic gait. His blood lactate and pyruvate levels were elevated. Muscle biopsy showed mild lipid accumulation in muscle fiber. An electrocardiogram showed incomplete right bundle branch block. Brain magnetic resonance imaging showed bilateral, symmetrical lesions in the basal ganglia, supporting the diagnosis of Leigh syndrome. 13513G>A mutation was identified by gene analysis in the patient, which led to mitochondrial respiratory chain complex I deficiency. Multivitamins and L-carnitine were administered. At present, the patient is 16 years old and has progressive deterioration with significant muscle weakness and body weight loss. He is absent from school. He has no obvious retardation in intelligence. 13513G>A mutation was first identified by gene analysis in Chinese population with Leigh syndrome. This may be helpful in genetic counseling.

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

PubMed

Chol, M; Lebon, S; Bénit, P; Chretien, D; de Lonlay, P; Goldenberg, A; Odent, S; Hertz-Pannier, L; Vincent-Delorme, C; Cormier-Daire, V; Rustin, P; Rötig, A; Munnich, A

2003-03-01

Leigh syndrome is a subacute necrotising encephalomyopathy frequently ascribed to mitochondrial respiratory chain deficiency. This condition is genetically heterogeneous, as mutations in both mitochondrial (mt) and nuclear genes have been reported. Here, we report the G13513A transition in the ND5 mtDNA gene in three unrelated children with complex I deficiency and a peculiar MRI aspect distinct from typical Leigh syndrome. Brain MRI consistently showed a specific involvement of the substantia nigra and medulla oblongata sparing the basal ganglia. Variable degrees of heteroplasmy were found in all tissues tested and a high percentage of mutant mtDNA was observed in muscle. The asymptomatic mothers presented low levels of mutant mtDNA in blood leucocytes. This mutation, which affects an evolutionary conserved amino acid (D393N), has been previously reported in adult patients with MELAS or LHON/MELAS syndromes, emphasising the clinical heterogeneity of mitochondrial DNA mutations. Since the G13513A mutation was found in 21% of our patients with Leigh syndrome and complex I deficiency (3/14), it appears that this mutation represents a frequent cause of Leigh-like syndrome, which should be systematically tested for molecular diagnosis in affected children and for genetic counselling in their maternal relatives.

Pakistan needs to speed up its human immunodeficiency virus control strategy to achieve targets in fast-track acquired immune deficiency syndrome response.

PubMed

Waheed, Yasir; Waheed, Hasnain

2017-05-12

In last fifteen years remarkable success in the fight against human immunodeficiency virus (HIV) is achieved globally. The number of HIV infections has decreased and the number of people on antiretroviral therapy is increased. This all is possible by strong political commitments and heavy investments in the fight against HIV. Pakistan is among few Asian countries in which HIV cases are increasing year by year since 1990. There are 94000 cases of HIV in Pakistan and only 14000 are registered with government. The main source of HIV infection in Pakistan is the use of contaminated injection equipment among people who inject drugs (PWID). The overall prevalence of HIV among PWID in Pakistan is 27.2%. There are five cities in Pakistan in which HIV prevalence is above 40% in PWIDs. In June 2016, United Nations political declaration on acquired immune deficiency syndrome (AIDS) provided a global mandate to fast-track the AIDS response over the next five years to achieve the targets in Sustainable Development Goals. To achieve the targets in fast-track AIDS response, the global leaders showed strong commitments to invest $ 26 billion per year by 2020. Pakistan needs to speed up its HIV control program. There is a dire need to locate all HIV positive people and enroll them in the treatment program. Pakistan also needs to calculate exact number of people living with HIV, increase HIV treatment centers and increase HIV awareness. Recently, Global Fund invested handsome money in the fight against HIV. Let's hope the country will have effective HIV control strategy to achieve the HIV elimination target by 2030.

[Primary Intracranial Malignant Lymphoma Associated with Acquired Immunodeficiency Syndrome(AIDS):A Case Report].

PubMed

Inaka, Yasufumi; Otani, Naoki; Nishida, Sho; Fujii, Kazuya; Ueno, Hideaki; Tomura, Satoshi; Tomiyama, Arata; Osada, Hideo; Wada, Kojiro; Maeda, Takuya; Mori, Kentaro

2017-11-01

The spread of human immunodeficiency virus(HIV)infection may result in an increased likelihood of surgery in patients with HIV infection. We treated a patient with intracranial malignant lymphoma associated with acquired immunodeficiency syndrome(AIDS)caused by HIV infection. The recommendations of the countermeasure manual for AIDS were followed. Only surgical staff without finger injury or inflammation were permitted to be involved in the operation. All staff were dressed in a waterproof, full-body surgical gown, and wore double gloves, double foot covers, and an N95 mask. The surgery could be performed safely with such infection control measures. Histological examination revealed a diffuse large B-cell lymphoma. The patient was referred to the Division of Infectious Diseases and Respiratory Medicine for chemotherapy.

33 CFR 72.01-30 - Temporary deficiencies.

Code of Federal Regulations, 2010 CFR

2010-07-01

... 33 Navigation and Navigable Waters 1 2010-07-01 2010-07-01 false Temporary deficiencies. 72.01-30 Section 72.01-30 Navigation and Navigable Waters COAST GUARD, DEPARTMENT OF HOMELAND SECURITY AIDS TO NAVIGATION MARINE INFORMATION Notices to Mariners § 72.01-30 Temporary deficiencies. Temporary deficiencies...

33 CFR 72.01-30 - Temporary deficiencies.

Code of Federal Regulations, 2011 CFR

2011-07-01

... 33 Navigation and Navigable Waters 1 2011-07-01 2011-07-01 false Temporary deficiencies. 72.01-30 Section 72.01-30 Navigation and Navigable Waters COAST GUARD, DEPARTMENT OF HOMELAND SECURITY AIDS TO NAVIGATION MARINE INFORMATION Notices to Mariners § 72.01-30 Temporary deficiencies. Temporary deficiencies...

Effect of vitamin D deficiency in Korean patients with acute respiratory distress syndrome.

PubMed

Park, Sojung; Lee, Min Gi; Hong, Sang-Bum; Lim, Chae-Man; Koh, Younsuck; Huh, Jin Won

2018-06-20

Vitamin D modulates innate and adaptive immune responses, and vitamin D deficiency is associated with increased mortality in hospitalized patients with pneumonia. We evaluated the prevalence of vitamin D deficiency in Korean patients with acute respiratory distress syndrome (ARDS) and its effect on the clinical outcomes of ARDS. We retrospectively analyzed the data of 108 patients who had a measured serum level of 25-hydroxy vitamin D3 (25(OH)D3) at the time of diagnosis with ARDS. The clinical outcomes were evaluated based on 25(OH)D3 levels of 20 ng/mL and stratified by quartiles of 25(OH)D3 levels. The mean age of patients was 59.4 years old; 77 (71.3%) were male. Vitamin D deficiency was found in 103 patients (95.4%). The mean 25(OH)D3 level was 8.3 ± 7.0 ng/mL. Neither in-hospital mortality (40.0% vs. 68.0%) nor 6-month mortality (40.0% vs. 71.8%) significantly differed between groups. There were no significant differences in 25(OH)D3 level between survivors (8.1 ± 7.6 ng/mL) and non-survivors (8.5 ± 6.8 ng/mL, p = 0.765). There were no trends toward a difference in mortality among quartiles of 25(OH)D3 levels. However, 25(OH)D3 levels were inversely related with length of hospital stay and intensive care unit stay among in-hospital survivors. Vitamin D deficiency was prevalent in Korean patients with ARDS. However, levels of vitamin D were not associated with mortality. A large, prospective study is needed to evaluate the effects of vitamin D deficiency on clinical outcomes of ARDS.

CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome.

PubMed

Luna-Sánchez, Marta; Hidalgo-Gutiérrez, Agustín; Hildebrandt, Tatjana M; Chaves-Serrano, Julio; Barriocanal-Casado, Eliana; Santos-Fandila, Ángela; Romero, Miguel; Sayed, Ramy Ka; Duarte, Juan; Prokisch, Holger; Schuelke, Markus; Distelmaier, Felix; Escames, Germaine; Acuña-Castroviejo, Darío; López, Luis C

2017-01-01

Coenzyme Q (CoQ) is a key component of the mitochondrial respiratory chain, but it also has several other functions in the cellular metabolism. One of them is to function as an electron carrier in the reaction catalyzed by sulfide:quinone oxidoreductase (SQR), which catalyzes the first reaction in the hydrogen sulfide oxidation pathway. Therefore, SQR may be affected by CoQ deficiency. Using human skin fibroblasts and two mouse models with primary CoQ deficiency, we demonstrate that severe CoQ deficiency causes a reduction in SQR levels and activity, which leads to an alteration of mitochondrial sulfide metabolism. In cerebrum of Coq9 R239X mice, the deficit in SQR induces an increase in thiosulfate sulfurtransferase and sulfite oxidase, as well as modifications in the levels of thiols. As a result, biosynthetic pathways of glutamate, serotonin, and catecholamines were altered in the cerebrum, and the blood pressure was reduced. Therefore, this study reveals the reduction in SQR activity as one of the pathomechanisms associated with CoQ deficiency syndrome. © 2016 The Authors. Published under the terms of the CC BY 4.0 license.

Sociocultural dimensions of HIV/AIDS among Middle Eastern immigrants in the US: bridging culture with HIV/AIDS programmes.

PubMed

Ehsanzadeh-Cheemeh, Parvaneh; Sadeque, Abul; Grimes, Richard M; Essien, E James

2009-09-01

The population of Middle Eastern immigrants in the US has been increasing dramatically over the past 30 years, growing from 200,000 in 1970 to 1.5 million in 2000. These immigrants and their descendants constitute an important new population of interest for public health and other social programmes. With this addition to the cultural diversity of American society, it is important for healthcare programmes to be responsive to the unique cultural needs of those of Middle Eastern origin and to include them in healthcare curricula. This need is particularly imperative for human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS) intervention programmes, where the reduction of risky behaviours is essential to controlling the epidemic. When Middle Easterners emigrate to the US they must adjust to the American culture, which leads to preservation of some aspects of their culture and adjustment of behaviors to match American customs. This article aims to present sociocultural factors of HIV risk behaviours that are specific to Middle Eastern culture. The article also provides recommendations for HIV/AIDS-culturally appropriate intervention programmes.

Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death.

PubMed

Yahyaoui, Raquel; Espinosa, María Gracia; Gómez, Celia; Dayaldasani, Anita; Rueda, Inmaculada; Roldán, Ana; Ugarte, Magdalena; Lastra, Gonzalo; Pérez, Vidal

2011-11-01

Neonatal onset of carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive, often lethal disorder of the mitochondrial beta-oxidation of long-chain fatty acids. It is a rare multiorgan disease which includes hypoketotic hypoglycemia, severe hepatomuscular symptoms, cardiac abnormalities, seizures and lethargy, as well as dysmorphic features. Until now, only 22 affected families have been described in the literature. An increasing number of mutations are being identified in the CPT2 gene, with a distinct genotype-phenotype correlation in most cases. Herein we report a new case of neonatal CPT II deficiency associated with Dandy-Walker syndrome and sudden death at 13 days of life. CPT II deficiency was suggested by acylcarnitine analysis of dried-blood on filter paper in the expanded newborn screening. Genetic analysis of the CPT2 gene identified the presence of a previously described mutation in homozygosity (c.534_558del25bpinsT). All lethal neonatal CPT II deficiency patients previously described presented severe symptoms during the first week of life, although this was not the case in our patient, who remained stable and without apparent vital risk during the first 11 days of life. The introduction of tandem mass spectrometry to newborn screening has substantially improved our ability to detect metabolic diseases in the newborn period. This case illustrates the value of expanded newborn screening in a neonate with an unusual clinical presentation, combining hydrocephalus and sudden death, that might not commonly lead to the suspicion of an inborn error of metabolism. Copyright © 2011 Elsevier Inc. All rights reserved.

Three molecular pathways model colorectal carcinogenesis in Lynch syndrome.

PubMed

Ahadova, Aysel; Gallon, Richard; Gebert, Johannes; Ballhausen, Alexej; Endris, Volker; Kirchner, Martina; Stenzinger, Albrecht; Burn, John; von Knebel Doeberitz, Magnus; Bläker, Hendrik; Kloor, Matthias

2018-07-01

Lynch syndrome is caused by germline mutations of DNA mismatch repair (MMR) genes. MMR deficiency has long been regarded as a secondary event in the pathogenesis of Lynch syndrome colorectal cancers. Recently, this concept has been challenged by the discovery of MMR-deficient crypt foci in the normal mucosa. We aimed to reconstruct colorectal carcinogenesis in Lynch syndrome by collecting molecular and histology evidence from Lynch syndrome adenomas and carcinomas. We determined the frequency of MMR deficiency in adenomas from Lynch syndrome mutation carriers by immunohistochemistry and by systematic literature analysis. To trace back the pathways of pathogenesis, histological growth patterns and mutational signatures were analyzed in Lynch syndrome colorectal cancers. Literature and immunohistochemistry analysis demonstrated MMR deficiency in 491 (76.7%) out of 640 adenomas (95% CI: 73.3% to 79.8%) from Lynch syndrome mutation carriers. Histologically normal MMR-deficient crypts were found directly adjacent to dysplastic adenoma tissue, proving their role as tumor precursors in Lynch syndrome. Accordingly, mutation signature analysis in Lynch colorectal cancers revealed that KRAS and APC mutations commonly occur after the onset of MMR deficiency. Tumors lacking evidence of polypous growth frequently presented with CTNNB1 and TP53 mutations. Our findings demonstrate that Lynch syndrome colorectal cancers can develop through three pathways, with MMR deficiency commonly representing an early and possibly initiating event. This underlines that targeting MMR-deficient cells by chemoprevention or vaccines against MMR deficiency-induced frameshift peptide neoantigens holds promise for tumor prevention in Lynch syndrome. © 2018 UICC.

Therapeutic Efficacy and Safety of GH in Japanese Children with Down Syndrome Short Stature Accompanied by GH Deficiency.

PubMed

Meguri, Kyoko; Inoue, Masaru; Narahara, Koji; Sato, Takahiro; Takata, Ami; Ohki, Nobuhiko; Ozono, Keiichi

2013-10-01

In this study, we investigated the effects of GH treatment in children with Down syndrome who had been diagnosed with GH deficiency (GHD). A total of 20 subjects were investigated in this study. Fourteen Down syndrome children (5 boys and 9 girls) with short stature due to GHD were treated with GH at Okayama Red Cross General Hospital, and 6 Down syndrome children (4 boys and 2 girls) with short stature due to GHD were registered in the Pfizer International Growth Database (KIGS). Height SD score (SDS) increased throughout the three-year GH treatment period. The overall mean height SDS increased from -3.5 at baseline to -2.5 after 3 yr of treatment. The mean change in height SDS during these 3 yr was 1.1. In addition, height assessment of SD score based on Down syndrome-specific growth data in the Japanese population revealed that the height SDS (Down syndrome) also increased across the 3-yr GH treatment period. The mean change in height SDS (Down syndrome) during these three years was 1.3. GH therapy was effective for Down syndrome short stature accompanied by GHD, and no new safety concerns were found in this study.

A Decade of Denial: Teens and AIDS in America. A Report of the Select Committee on Children, Youth, and Families. Together with Additional Views and Dissenting Minority Views. House of Representatives, 102d Congress, 2nd Session.

ERIC Educational Resources Information Center

Congress of the U.S., Washington, DC. House Select Committee on Children, Youth, and Families.

Based on hearings, current research, and interviews with experts, including researchers, medical and service providers, and Acquired Immune Deficiency Syndrome (AIDS) educators, this Select Committee report assesses the impact of the Human Immunodeficiency Virus (HIV) epidemic on youth and identifies strategies policymakers and program planners…

Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome.

PubMed

Bruwer, Zandrè; Algar, Ursula; Vorster, Alvera; Fieggen, Karen; Davidson, Alan; Goldberg, Paul; Wainwright, Helen; Ramesar, Rajkumar

2014-04-01

Biallelic germline mutations in mismatch repair genes predispose to constitutional mismatch repair deficiency syndrome (CMMR-D). The condition is characterized by a broad spectrum of early-onset tumors, including hematological, brain and bowel and is frequently associated with features of Neurofibromatosis type 1. Few definitive screening recommendations have been suggested and no published reports have described predictive testing. We report on the first case of predictive testing for CMMR-D following the identification of two non-consanguineous parents, with the same heterozygous mutation in MLH1: c.1528C > T. The genetic counseling offered to the family, for their two at-risk daughters, is discussed with a focus on the ethical considerations of testing children for known cancer-causing variants. The challenges that are encountered when reporting on heterozygosity in a child younger than 18 years (disclosure of carrier status and risk for Lynch syndrome), when discovered during testing for homozygosity, are addressed. In addition, the identification of CMMR-D in a three year old, and the recommended clinical surveillance that was proposed for this individual is discussed. Despite predictive testing and presymptomatic screening, the sudden death of the child with CMMR-D syndrome occurred 6 months after her last surveillance MRI. This report further highlights the difficulty of developing guidelines, as a result of the rarity of cases and diversity of presentation.

Colour vision deficiency.

PubMed

Simunovic, M P

2010-05-01

Colour vision deficiency is one of the commonest disorders of vision and can be divided into congenital and acquired forms. Congenital colour vision deficiency affects as many as 8% of males and 0.5% of females--the difference in prevalence reflects the fact that the commonest forms of congenital colour vision deficiency are inherited in an X-linked recessive manner. Until relatively recently, our understanding of the pathophysiological basis of colour vision deficiency largely rested on behavioural data; however, modern molecular genetic techniques have helped to elucidate its mechanisms. The current management of congenital colour vision deficiency lies chiefly in appropriate counselling (including career counselling). Although visual aids may be of benefit to those with colour vision deficiency when performing certain tasks, the evidence suggests that they do not enable wearers to obtain normal colour discrimination. In the future, gene therapy remains a possibility, with animal models demonstrating amelioration following treatment.

Toxoplasmosis presenting as panhypopituitarism in a patient with the acquired immune deficiency syndrome.

PubMed

Milligan, S A; Katz, M S; Craven, P C; Strandberg, D A; Russell, I J; Becker, R A

1984-10-01

A 57-year-old man with a prior episode of lymphatic toxoplasmosis presented with signs of anterior panhypopituitarism, which was confirmed by standard endocrinologic evaluation. The diagnosis of central nervous system toxoplasmosis was established by brain biopsy after nondiagnostic serologic and radiographic studies. At autopsy, the anterior pituitary was necrotic, with Toxoplasma abscesses in neighboring brain structures. Clinical and laboratory data met the criteria for the acquired immune deficiency syndrome. Although this is the first reported case of toxoplasmosis presenting as panhypopituitarism, future cases may be identified since central nervous system toxoplasmosis is being recognized more frequently in patients with immunodeficiency.

Communication and education as vaccine against the spread of acquired immune deficiency syndrome (AIDS) in Africa.

PubMed

Soola, E O

1991-01-01

Attention is focused on the segmentation of the audience (urban, rural, urban slum) and messages, and on how appropriate communication and educational strategies can be adopted to create awareness of AIDS among the African population. It is important to determine the scope, nature, and content of the message in addition to the delivery of these messages through proper channels. Channels of communication vary in reach and influence, and different segments of the population vary in the capacity to absorb information. Rural people are considered susceptible because of their penchant for continually using injections for treatment of any ailment; the source of concern is unsterilized needles and syringes. The semantics of AIDs is discussed to emphasize the problem of how to identify AIDs among the multiplicity of languages in individual countries. For instance, in Nigeria there may be 150-400 languages, and these languages lack systematically developed metalanguage and specialized vocabularies. The view that local language use must be one way, linear is accepted, and the difficulties surmounted. Local languages may be used to transmit information of a nontechnical nature. The literate minority should have access to detailed information on causes, modes of transmission, symptoms, treatment or management, but not everyone needs this extent of detail. The rural and urban residents should know about the incurability of the disease, the mode of transmission, its symptoms, and what should be done if someone is suspected of having an HIV infection. Already the Hausa of Nigeria have a term for AIDs, Karya-Garkuwa, which suggests a disease that breaks down the mechanism of the biological functioning of the body. Communicators must be knowledgeable and able to effectively transmit facts not myths. Of the 3 modes of transmission (sex, blood, mother to child), sexual transmission is the most important. Blood routes are through transfusions, contaminated blood products for

Laron syndrome (primary growth hormone insensitivity): a unique model to explore the effect of insulin-like growth factor 1 deficiency on human hair.

PubMed

Lurie, R; Ben-Amitai, D; Laron, Z

2004-01-01

Classical Laron syndrome is a recessive disease of primary insulin-like growth factor 1 (IGF-1) deficiency and primary growth hormone insensitivity. Affected children have, among other defects, sparse hair growth and frontal recessions. The hair is thin and easy to pluck. Young adults have various degrees of alopecia, more pronounced in males. The aim of the present study was to investigate the effect of primary IGF-1 deficiency on hair structure. The study sample included 11 patients with Laron syndrome--5 children (2 untreated) and 6 adults (5 untreated). Hairs were examined by light and electron microscopy. The most significant structured defect, pili torti et canaliculi, was found in 2 young, untreated patients. Grooving, tapered hair and trichorrhexis nodosa were found in the remainder. IGF-1-treated patients had either none or significantly fewer pathological changes compared to the untreated patients. This is the first documentation of the role of primary IGF-1 deficiency on hair structure in human beings. Copyright 2004 S. Karger AG, Basel

An assessment of the knowledge, attitudes, and risk perceptions of pharmacy students regarding HIV/AIDS.

PubMed

Ahmed, Syed Imran; Hassali, Mohamed Azmi; Aziz, Noorizan Abdul

2009-02-19

To evaluate the level of knowledge, attitudes, and risk perceptions of University Sains Malaysia final-year pharmacy students regarding human immunodeficiency virus (HIV) and acquired immunity deficiency syndrome (AIDS). A cross-sectional study among pharmacy students. Data were analyzed with Chi-square to find difference at p value < 0.05. The majority of students (83.07%) responded showing a difference in gender and race. Students showed low willingness (9.2%) to assist patients and low confidence (36.1%) in their education about HIV/AIDS patients. Students recommended HIV testing for health care professionals (69.4%) and patients (75.9%) before surgical procedures. Students knew little about Post Exposure Prophylaxis (18.5%) or about the time for HIV to develop into AIDS (57.4%). About 40% of students were unaware of the inability of antivirals to treat HIV/AIDS. Students had low awareness for opportunistic infections (18.5%), and low agreement on competency to treat and counsel HIV patients (12.9%). The study highlighted students' misconceptions, negative attitudes, and risk perceptions towards HIV/AIDS.

An Assessment of the Knowledge, Attitudes, and Risk Perceptions of Pharmacy Students Regarding HIV/AIDS

PubMed Central

Hassali, Mohamed Azmi; Aziz, Noorizan Abdul

2009-01-01

Objective To evaluate the level of knowledge, attitudes, and risk perceptions of University Sains Malaysia final-year pharmacy students regarding human immunodeficiency virus (HIV) and acquired immunity deficiency syndrome (AIDS). Method A cross-sectional study among pharmacy students. Data were analyzed with Chi-square to find difference at p value < 0.05. Results The majority of students (83.07%) responded showing a difference in gender and race. Students showed low willingness (9.2%) to assist patients and low confidence (36.1%) in their education about HIV/AIDS patients. Students recommended HIV testing for health care professionals (69.4%) and patients (75.9%) before surgical procedures. Students knew little about Post Exposure Prophylaxis (18.5%) or about the time for HIV to develop into AIDS (57.4%). About 40% of students were unaware of the inability of antivirals to treat HIV/AIDS. Students had low awareness for opportunistic infections (18.5%), and low agreement on competency to treat and counsel HIV patients (12.9%). Conclusion The study highlighted students' misconceptions, negative attitudes, and risk perceptions towards HIV/AIDS. PMID:19513153

Influence of the home environment on the prevention of mother to child transmission of human immunodeficiency virus/acquired immune-deficiency syndrome in South Africa.

PubMed

Sewnunan, A; Modiba, L M

2015-01-01

The human immunodeficiency virus and acquired immune-deficiency syndrome (HIV/AIDS) is still a 'family crises' which marks the beginning of the deterioration of the family unit and the trauma in the emotional, psychological and material lives of both the mother and child. In South African context where the majority of HIV-positive mothers are young single women who live in extended families, disclosure to the sexual partner alone is not an adequate condition for the success of prevention of mother to child transmission (PMTCT). In South Africa, close to one in three women who attend antenatal clinics are HIV positive. KwaZulu-Natal is one of the worst affected provinces, where as many as 40-60% of pregnant women attending antenatal services are living with HIV infection. The study sought to investigate the link between the home environment and its contribution to the success of the programme on PMTCT of HIV/AIDS. A qualitative, explorative, descriptive and contextual study was used in this study to explore whether the home environment for the support system is available for the HIV-positive women on the PMTCT programme. The population of this study included all women who have undergone counselling and tested HIV positive and who have joined the programme on PMTCT of HIV/AIDS in a specific hospital in KwaZulu-Natal Province. Although 14 women agreed to participate in the study, only 10 women were interviewed as saturation was attained. Data were collected using semi-structured interview schedule. Interviews were audio-taped and field notes were taken. Content analysis was used and it was done manually. This study revealed that one of the major issues still surrounding HIV/AIDS and PMTCT is that of non-disclosure, selective disclosure and the stigma and discrimination that surrounds this disease.

Long-term dietary nitrite and nitrate deficiency causes the metabolic syndrome, endothelial dysfunction and cardiovascular death in mice.

PubMed

Kina-Tanada, Mika; Sakanashi, Mayuko; Tanimoto, Akihide; Kaname, Tadashi; Matsuzaki, Toshihiro; Noguchi, Katsuhiko; Uchida, Taro; Nakasone, Junko; Kozuka, Chisayo; Ishida, Masayoshi; Kubota, Haruaki; Taira, Yuji; Totsuka, Yuichi; Kina, Shin-Ichiro; Sunakawa, Hajime; Omura, Junichi; Satoh, Kimio; Shimokawa, Hiroaki; Yanagihara, Nobuyuki; Maeda, Shiro; Ohya, Yusuke; Matsushita, Masayuki; Masuzaki, Hiroaki; Arasaki, Akira; Tsutsui, Masato

2017-06-01

Nitric oxide (NO) is synthesised not only from L-arginine by NO synthases (NOSs), but also from its inert metabolites, nitrite and nitrate. Green leafy vegetables are abundant in nitrate, but whether or not a deficiency in dietary nitrite/nitrate spontaneously causes disease remains to be clarified. In this study, we tested our hypothesis that long-term dietary nitrite/nitrate deficiency would induce the metabolic syndrome in mice. To this end, we prepared a low-nitrite/nitrate diet (LND) consisting of an amino acid-based low-nitrite/nitrate chow, in which the contents of L-arginine, fat, carbohydrates, protein and energy were identical with a regular chow, and potable ultrapure water. Nitrite and nitrate were undetectable in both the chow and the water. Three months of the LND did not affect food or water intake in wild-type C57BL/6J mice compared with a regular diet (RD). However, in comparison with the RD, 3 months of the LND significantly elicited visceral adiposity, dyslipidaemia and glucose intolerance. Eighteen months of the LND significantly provoked increased body weight, hypertension, insulin resistance and impaired endothelium-dependent relaxations to acetylcholine, while 22 months of the LND significantly led to death mainly due to cardiovascular disease, including acute myocardial infarction. These abnormalities were reversed by simultaneous treatment with sodium nitrate, and were significantly associated with endothelial NOS downregulation, adiponectin insufficiency and dysbiosis of the gut microbiota. These results provide the first evidence that long-term dietary nitrite/nitrate deficiency gives rise to the metabolic syndrome, endothelial dysfunction and cardiovascular death in mice, indicating a novel pathogenetic role of the exogenous NO production system in the metabolic syndrome and its vascular complications.

Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases

ClinicalTrials.gov

2018-02-06

Severe Combined Immunodeficiency (SCID); Immunodeficiency With Predominant T-cell Defect, Unspecified; Severe Chronic Neutropenia; Chronic Granulomatous Disease (CGD); Hyper IgE Syndromes; Hyper IgM Deficiencies; Wiskott-Aldrich Syndrome; Mendelian Susceptibility to Mycobacterial Disease; Common Variable Immune Deficiency (CVID)

[Distribution characteristics of basic syndromes of chronic functional constipation and its related factors analysis].

PubMed

Zhao, Lei; Liao, Xiu-jun; Yang, Guan-gen; Mao, Wei-ming; Zhang, Xiu-feng; Deng, Qun; Wu, Wen-jing

2014-10-01

To explore the distribution characteristics of basic syndromes and its related factors in patients with chronic functional constipation (CFC). The complete data of 538 patients with CFC were collected and initial database was established with Epidata 3. 0. TCM syndrome typing was performed. The distribution characteristics of basic syndromes were analyzed using SPSS 17. 0 Software. The univariate and multivariate Logistic regression analyses were performed with SPSS 17. 0 Software to determine basic syndrome related factors such as age, engaged professionals, sleep quality, depression, mental stress, interpersonal relations, work fatigue, stimulating beverage, exercise conditions, Western medicine type of constipation, and so on. The TCM syndrome frequency of CFC patients was sequenced from high to low as qi deficiency syndrome (380 cases, 70.6%), qi stagnation syndrome (337 cases, 62.6%), blood deficiency syndrome (234 cases, 43.5%), yin deficiency syndrome (220 cases, 40.9%), yang deficiency syndrome (197 cases, 36.6%), and others(58 cases, 10. 8%) . Most patients were complicated with complex syndromes, and the most common complex syndromes were qi deficiency complicated qi stagnation syndrome (275 cases, 51.1%) and qi deficiency complicated blood deficiency syndrome (222 cases, 41.3%). Aging, work fatigue, and exercise conditions were main related factors for qi deficiency syndrome (P <0. 01, P <0. 05). Poor emotional (depression and anxiety tendencies), mental stress, interpersonal relations, defecation barriers constipation were main related factors for qi stagnation syndrome (P <0.01). Sleep quality and poor emotional (depression and anxiety tendencies) were main related factors for blood deficiency syndrome (P <0. 01, P < 0.05). Stimulating beverages were main related factor for yin deficiency syndrome (P <0.05). Engaged in mental work and slow transit constipation were main related factors for yang deficiency syndrome (P < 0. 01, P <0. 05). CFC is featured

Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency

PubMed Central

Stepensky, Polina; Rensing-Ehl, Anne; Gather, Ruth; Revel-Vilk, Shoshana; Fischer, Ute; Nabhani, Schafiq; Beier, Fabian; Brümmendorf, Tim H.; Fuchs, Sebastian; Zenke, Simon; Firat, Elke; Pessach, Vered Molho; Borkhardt, Arndt; Rakhmanov, Mirzokhid; Keller, Bärbel; Warnatz, Klaus; Eibel, Hermann; Niedermann, Gabriele; Elpeleg, Orly

2015-01-01

Autoimmune cytopenia is a frequent manifestation of primary immunodeficiencies. Two siblings presented with Evans syndrome, viral infections, and progressive leukopenia. DNA available from one patient showed a homozygous frameshift mutation in tripeptidyl peptidase II (TPP2) abolishing protein expression. TPP2 is a serine exopeptidase involved in extralysosomal peptide degradation. Its deficiency in mice activates cell death programs and premature senescence. Similar to cells from naïve, uninfected TPP2-deficient mice, patient cells showed increased major histocompatibility complex I expression and most CD8+ T-cells had a senescent CCR7-CD127−CD28−CD57+ phenotype with poor proliferative responses and enhanced staurosporine-induced apoptosis. T-cells showed increased expression of the effector molecules perforin and interferon-γ with high expression of the transcription factor T-bet. Age-associated B-cells with a CD21− CD11c+ phenotype expressing T-bet were increased in humans and mice, combined with antinuclear antibodies. Moreover, markers of senescence were also present in human and murine TPP2-deficient fibroblasts. Telomere lengths were normal in patient fibroblasts and granulocytes, and low normal in lymphocytes, which were compatible with activation of stress-induced rather than replicative senescence programs. TPP2 deficiency is the first primary immunodeficiency linking premature immunosenescence to severe autoimmunity. Determination of senescent lymphocytes should be part of the diagnostic evaluation of children with refractory multilineage cytopenias. PMID:25414442

AIDS (Acquired Immune Deficiency Syndrome): Views on the Administration’s Fiscal Year 1989 Public Health Service Budget

DTIC Science & Technology

1988-06-01

200,000 for the CenterE for Disease Control (CDC) to study AIDS. For fiscal year 1989, the proposed federal PHS budget increased to $1.3 billion for...to educate the public, $40( million (31 percent); -- epidemiological studies and surveillance to understand and track the spread of the disease , $229...potential impact of the AIDS epidemic. Investing in prevention now can help contain the direct and indirect costs of the disease in the future. As it

VIT. B12 DEFICIENCY IN CHILDREN (IMERSLUND-GRÄSBECK SYNDROME IN TWO PAIRS OF SIBLINGS).

PubMed

Krzemień, Grazyna; Turczyn, Agnieszka; Szmigielska, Agnieszka; Roszkowska-Blaim, Maria

2015-01-01

Improvement in the quality of life in Europe and North America in last decades caused that economical and social aspects of living conditions of the population have less effect and genetic defects of malabsorption of vitamin B12 became the main reason for cobalamin deficiency in children. Imerslund-Grasbeck syndrome (IGS) is characterized by vitamin B12 deficiency that leads usually to megaloblastic anemia and mild proteinuria. We described two pairs of siblings in two families with IGS. The diagnosis in first family (two brothers) was established at 33 and 22 months of age. The reason for diagnostic tests were proteinuria and anemia. Apart from respiratory tract infections, they didn't present other symptoms of cobalamin deficiency. In the second family IGS was diagnosed in children at 5 and 8 years of age. Diagnostic evaluation procedures wereperformedbecause ofneurologicalsigns, including weakness, loss of appetite, dysmorphia, psychomotor retardation. Laboratory tests revealed megaloblastic anemia, low concentration of vitamin B12 in serum and mild proteinuria. In the first pair low concentration of vitamin B12 was validated by the Schilling test, in the second pair methylomalonate acid was detected in the urinary metabolic test. All children were successfully treated with vitamin B12 and anemia and neurological signs disappeared. Long-term follow up showed failure to thrive in the girl and physical and mental retardation, microcephaly in her brother. Proteinuria in the range: 0.3-1.2 g/24 h was detected in each child, and the other laboratory tests were normal. Clinical symptoms, laboratory tests and good reaction to parenteral treatment with vitamin B12 allowed us to diagnose Imerslund-Grasbeck syndrome, even without genetic tests. A delayed diagnosis of congenital malabsorption of cobalamin can lead to physical and mental retardation in children. Children with megaloblastic anemia and proteinuria resistant to classical treatment should be tested for

Tenascin-x deficiency mimics ehlers-danlos syndrome in mice through alteration of collagen deposition

DOE Office of Scientific and Technical Information (OSTI.GOV)

Mao, J.R.; Taylor, G.; Dean, W.B.

2002-03-01

Tenascin-X is a large extracellular matrix protein of unknown function1-3. Tenascin-X deficiency in humans is associated with Ehlers-Danlos syndrome4,5, a generalized connective tissue disorder resulting from altered metabolism of the fibrillar collagens6. Because TNXB is the first Ehlers-Danlos syndrome gene that does not encode a fibrillar collagen or collagen-modifying enzyme7-14, we suggested that tenascin-X might regulate collagen synthesis or deposition15. To test this hypothesis, we inactivated Tnxb in mice. Tnxb-/- mice showed progressive skin hyperextensibility, similar to individuals with Ehlers-Danlos syndrome. Biomechanical testing confirmed increased deformability and reduced tensile strength of their skin. The skin of Tnxb-/- mice was histologicallymore » normal, but its collagen content was significantly reduced. At the ultrastructural level, collagen fibrils of Tnxb-/- mice were of normal size and shape, but the density of fibrils in their skin was reduced, commensurate with the reduction in collagen content. Studies of cultured dermal fibroblasts showed that although synthesis of collagen I by Tnxb-/- and wildtype cells was similar, Tnxb-/- fibroblasts failed to deposit collagen I into cell-associated matrix. This study confirms a causative role for TNXB in human Ehlers-Danlos syndrome and suggests that tenascin-X is an essential regulator of collagen deposition by dermal fibroblasts.« less

Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency.

PubMed

Montero, Raquel; Pineda, Mercé; Aracil, Asun; Vilaseca, Maria-Antonia; Briones, Paz; Sánchez-Alcázar, José-Antonio; Navas, Plácido; Artuch, Rafael

2007-01-01

Coenzyme Q(10) (CoQ) deficiency is an autosomal recessive disorder presenting five phenotypes: a myopathic form, a severe infantile neurological syndrome associated with nephritic syndrome, an ataxic variant, Leigh syndrome and a pure myopathic form. The third is the most common phenotype related with CoQ deficiency and it will be the focus of this review. This new syndrome presents muscle CoQ deficiency associated with cerebellar ataxia and cerebellar atrophy as the main neurological signs. Biochemically, the hallmark of CoQ deficiency syndrome is a decreased CoQ concentration in muscle and/or fibroblasts. There is no molecular evidence of the enzyme or gene involved in primary CoQ deficiencies associated with cerebellar ataxia, although recently a family has been reported with mutations at COQ2 gene who present a distinct phenotype. Patients with primary CoQ deficiency may benefit from CoQ supplementation, although the clinical response to this therapy varies even among patients with similar phenotypes. Some present an excellent response to CoQ while others show only a partial improvement of some symptoms and signs. CoQ deficiency is the mitochondrial encephalomyopathy with the best clinical response to CoQ supplementation, highlighting the importance of an early identification of this disorder.

Nonhospital Care for AIDS Victims. Hearing before the Subcommittee on Health and the Environment of the Committee on Energy and Commerce. House of Representatives, Ninety-Ninth Congress, Second Session (March 5, 1986).

ERIC Educational Resources Information Center

Congress of the U.S., Washington, DC. House Committee on Energy and Commerce.

This document presents the text of the Congressional hearing called to discuss the provision of health care services to people with Acquired Immune Deficiency Syndrome (AIDS) outside of hospitals, including home health care, hospice care, nursing home care, personal care and counseling, and other support services for patients and their families.…

The Kenny syndrome, a rare type of growth deficiency with tubular stenosis, transient hypoparathyroidism and anomalies of refraction.

PubMed

Majewski, F; Rosendahl, W; Ranke, M; Nolte, K

1981-03-01

One family (3 cases) with the Kenny syndrome and a second family (3 cases) with features of Kenny syndrome but lacking medullary stenosis are reported. The main symptoms in both families are proportionate dwarfism, cortical thickening of tubular bones, variable anomalies of the calvaria, anemia, transient hypoparathyroidism and variable ocular anomalies. The latter include microphthalmia, and moderate-to-severe myopia or hyperopia. In the first family there was medullary stenosis of most tubular bones. In the second family two cases exhibited mild-to-moderate cortical thickening of tubular bones, but absent or mild medullary stenosis. Possible variability of the Kenny syndrome is discussed. Endocrine studies failed to demonstrate any permanent disturbance of parathormone or calcitonin metabolism, or GH deficiency. Pathogenesis remains unclear. Autosomal dominant inheritance seems to be likely.

Children with Down Syndrome Sharing Past Personal Event Narratives with Their Teacher Aides: A Pilot Study

ERIC Educational Resources Information Center

van Bysterveldt, Anne K.; Westerveld, Marleen F.

2017-01-01

Personal narrative ability is crucial for social-emotional well-being and classroom participation. This study investigated the ability of 10 school-age participants with Down syndrome to share past personal experiences with their teacher aides in their school environment. To participate, children were required to speak in short sentences and be…

Use of an electronic cognitive aid by a person with Korsakoff syndrome.

PubMed

de Joode, E A; van Boxtel, M P J; Hartjes, P; Verhey, F R J; van Heugten, C M

2013-11-01

The purpose of the current study was to evaluate the feasibility and the effectiveness of the use of a customized personal digital assistant (PDA) to support cognitive functioning in a person with Korsakoff syndrome. The PDA was compared with no external support and the use of a memory watch in a single case experimental design. Three main personal goal tasks were defined: "arrive at appointments on time", "execute a long-term task successfully", and "remember to ask for medication". No significant differences were found between the use of the memory watch and the use of the customized PDA. PDA use was perceived as feasible and effective and was considered as a more comprehensive aid than the memory watch. This study shows that a person with Korsakoff syndrome is able to use and benefit from a customized PDA. Replication of these findings in a larger effectiveness study is necessary.

Reductions in HIV risk-associated sexual behaviors among black male adolescents: effects of an AIDS prevention intervention.

PubMed Central

Jemmott, J B; Jemmott, L S; Fong, G T

1992-01-01

BACKGROUND. The number of reported cases of acquired immune deficiency syndrome (AIDS) is increasing disproportionately among Blacks in the United States. The relatively high incidence of sexually transmitted diseases among Black adolescents suggest the need for AIDS prevention programs to reduce their risk of sexually transmitted human immunodeficiency virus (HIV) infection. METHODS. Black male adolescents (n = 157) were randomly assigned to receive an AIDS risk reduction intervention aimed at increasing AIDS-related knowledge and weakening problematic attitudes toward risky sexual behavior, or to receive a control intervention on career opportunities. RESULTS. The adolescents who received the AIDS intervention subsequently had greater AIDS knowledge, less favorable attitudes toward risky sexual behavior, and lower intentions to engage in such behavior than did those in the control condition. Follow-up data collected 3 months later revealed that the adolescents who had received the AIDS intervention reported fewer occasions of coitus, fewer coital partners, greater use of condoms, and a lower incidence of heterosexual anal intercourse than did the other adolescents. CONCLUSIONS. These results suggest that interventions that increase knowledge about AIDS and change attitudes toward risky sexual behavior may have salutary effects on Black adolescents' risk of HIV infection. PMID:1536352

Primary and secondary CoQ(10) deficiencies in humans.

PubMed

Quinzii, Catarina M; Hirano, Michio

2011-01-01

CoQ(10) deficiencies are clinically and genetically heterogeneous. This syndrome has been associated with five major clinical phenotypes: (1) encephalomyopathy, (2) severe infantile multisystemic disease, (3) cerebellar ataxia, (4) isolated myopathy, and (5) nephrotic syndrome. In a few patients, pathogenic mutations have been identified in genes involved in the biosynthesis of CoQ(10) (primary CoQ(10) deficiencies) or in genes not directly related to CoQ(10) biosynthesis (secondary CoQ(10) deficiencies). Respiratory chain defects, ROS production, and apoptosis variably contribute to the pathogenesis of primary CoQ(10) deficiencies. Copyright © 2011 International Union of Biochemistry and Molecular Biology, Inc.

Vitamin D Deficiency is Prevalent in Females with Rett Syndrome

PubMed Central

Motil, Kathleen J.; Barrish, Judy O.; Lane, Jane; Geerts, Suzanne P.; Annese, Fran; McNair, Lauren; Percy, Alan K.; Skinner, Steven A; Neul, Jeffrey L.; Glaze, Daniel G.

2013-01-01

Objectives To determine the prevalence of vitamin D deficiency and identify the relation between 25-hydroxyvitamin D [25(OH)D] levels and the consumption of dietary sources of vitamin D or exposure to anticonvulsants in females with Rett syndrome (RTT). Study design Retrospective review of the medical records of 284 females with RTT to determine serum 25(OH)D and parathyroid hormone levels, nutritional status, dietary sources of vitamin D, exposure to anticonvulsants, degree of mobility, and MECP2 status. Results Twenty percent of females who were tested (n=157) had 25(OH)D levels <50 nmol/L. Multivitamin supplements, vitamin D fortified milk, and commercial formulas were consumed by 40%, 52%, and 54%. Anticonvulsants were used by 57% and 39% ambulated independently. Median 25(OH)D levels were lower in individuals who did not receive multivitamin supplements (p<0.05) or commercial formulas (p<0.001) than in those who did. Median 25(OH)D levels differed (p<0.01) among racial and ethnic groups, but the number in some groups was small. Nutritional status, use of anticonvulsants, degree of mobility, and MECP2 status did not influence 25(OH)D levels. Conclusion Vitamin D deficiency is prevalent in females with RTT. The use of multivitamin supplements or commercial formulas is associated with improved vitamin D levels. Attention to vitamin D may enhance bone mineral deposition and reduce the frequency of bone fractures in these individuals. PMID:21637127

Glucose-6-Phosphate Dehydrogenase Deficiency Mimicking Atypical Hemolytic Uremic Syndrome.

PubMed

Walsh, Patrick R; Johnson, Sally; Brocklebank, Vicky; Salvatore, Jacobo; Christian, Martin; Kavanagh, David

2018-02-01

A 4-year-old boy presented with nonimmune hemolysis, thrombocytopenia, and acute kidney injury. Investigations for an underlying cause failed to identify a definitive cause and a putative diagnosis of complement-mediated atypical hemolytic uremic syndrome (aHUS) was made. The patient was started initially on plasma exchange and subsequently eculizumab therapy, after which his kidney function rapidly improved. While on eculizumab therapy, despite adequate complement blockade, he presented 2 more times with hemolytic anemia and thrombocytopenia, but without renal involvement. Genetic analysis did not uncover a mutation in any known aHUS gene (CFH, CFI, CFB, C3, CD46, THBD, INF2, and DGKE) and anti-factor H antibodies were undetectable. Whole-exome sequencing was undertaken to identify a cause for the eculizumab resistance. This revealed a pathogenic variant in G6PD (glucose-6-phosphate dehydrogenase), which was confirmed by functional analysis demonstrating decreased erythrocyte G6PD activity. Eculizumab therapy was withdrawn. Complement-mediated aHUS is a diagnosis of exclusion and this case highlights the diagnostic difficulty that remains without an immediately available biomarker for confirmation. This case of G6PD deficiency presented with a phenotype clinically indistinguishable from complement-mediated aHUS. We recommend that G6PD deficiency be included in the differential diagnosis of patients presenting with aHUS and suggest measuring erythrocyte G6PD concentrations in these patients. Copyright © 2017. Published by Elsevier Inc.

The Immune Pathogenesis of Immune Reconstitution Inflammatory Syndrome Associated with Highly Active Antiretroviral Therapy in AIDS

PubMed Central

Zhou, Huaying; He, Yan; Chen, Zi; He, Bo; He, Mei

2014-01-01

Abstract The present study investigated the immunological pathogenesis of immune reconstitution inflammatory syndrome (IRIS) in acquired immunodeficiency syndrome (AIDS) patients undergoing highly active antiretroviral therapy (HAART). A total of 238 patients with AIDS who received initial HAART were included in this prospective cohort study. Blood samples were collected immediately, at baseline, at week 12, and at week 24 after initial HAART and at the onset of IRIS. Lymphocyte subsets, Th1 and Th2 cytokines, and interleukin (IL)-7 levels were measured by flow cytometry or ELISA. Among the 238 patients with AIDS who received HAART, 47 patients developed IRIS. The percentages of CD4+ and CD8+ naive, memory, and activated cells exhibited no significant differences between AIDS patients with and without IRIS 24 weeks after initial HAART. The percentage of CD4+CD25+Foxp3+ regulatory T cells was lower in IRIS patients than in non-IRIS patients before HAART, 12 weeks after HAART, 24 weeks after HAART, and at the onset of IRIS. IL-2 and interferon (IFN)-γ levels were significantly higher at week 4 and at the onset of IRIS in IRIS patients than in non-IRIS patients. In contrast, IL-4 and IL-10 levels were significantly lower at week 4 and at the onset of IRIS in IRIS patients than in non-IRIS patients. Plasma IL-7 decreased gradually with the progression of HAART. The level of IL-7 was higher in IRIS patients than in non-IRIS patients at all follow-up time points. An imbalance of Th1/Th2 cytokines, a consistently low CD+CD25+Fox3+ percentage, and a high IL-7 level may be crucial in the pathogenesis of IRIS in AIDS patients who had received HAART. PMID:25131160

Diagnosis and treatment of GH deficiency in Prader-Willi syndrome.

PubMed

Grugni, Graziano; Marzullo, Paolo

2016-12-01

Prader-Willi syndrome (PWS) results from under-expression of the paternally-derived chromosomal region 15q11-13. Growth failure is a recognized feature of PWS, and both quantitative and qualitative defects of the GH/IGF-I axis revealing GH deficiency (GHD) have been demonstrated in most children with PWS. In PWS adults, criteria for GHD are biochemically fulfilled in 8-38% of the studied cohorts. Published data support benefits of early institution of GH therapy (GHT) in PWS children, with positive effects on statural growth, body composition, metabolic homeostasis, and neurocognitive function. Like in pediatric PWS, GHT also yields beneficial effects on lean and body fat, exercise capacity, and quality of life of PWS adults. Although GHT has been generally administered safely in PWS children and adults, careful surveillance of risks is mandatory during prolonged GH replacement for all PWS individuals. Copyright © 2016 Elsevier Ltd. All rights reserved.

Deficient Circumferential Growth Is the Primary Determinant of Aortic Obstruction Attributable to Partial Elastin Deficiency.

PubMed

Jiao, Yang; Li, Guangxin; Korneva, Arina; Caulk, Alexander W; Qin, Lingfeng; Bersi, Matthew R; Li, Qingle; Li, Wei; Mecham, Robert P; Humphrey, Jay D; Tellides, George

2017-05-01

Williams syndrome is characterized by obstructive aortopathy attributable to heterozygous loss of ELN , the gene encoding elastin. Lesions are thought to result primarily from excessive smooth muscle cell (SMC) proliferation and consequent medial expansion, although an initially smaller caliber and increased stiffness of the aorta may contribute to luminal narrowing. The relative contributions of such abnormalities to the obstructive phenotype had not been defined. We quantified determinants of luminal stenosis in thoracic aortas of Eln -/- mice incompletely rescued by human ELN . Moderate obstruction was largely because of deficient circumferential growth, most prominently of ascending segments, despite increased axial growth. Medial thickening was evident in these smaller diameter elastin-deficient aortas, with medial area similar to that of larger diameter control aortas. There was no difference in cross-sectional SMC number between mutant and wild-type genotypes at multiple stages of postnatal development. Decreased elastin content was associated with medial fibrosis and reduced aortic distensibility because of increased structural stiffness but preserved material stiffness. Elastin-deficient SMCs exhibited greater contractile-to-proliferative phenotypic modulation in vitro than in vivo. We confirmed increased medial collagen without evidence of increased medial area or SMC number in a small ascending aorta with thickened media of a Williams syndrome subject. Deficient circumferential growth is the predominant mechanism for moderate obstructive aortic disease resulting from partial elastin deficiency. Our findings suggest that diverse aortic manifestations in Williams syndrome result from graded elastin content, and SMC hyperplasia causing medial expansion requires additional elastin loss superimposed on ELN haploinsufficiency. © 2017 American Heart Association, Inc.

PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking.

PubMed

Nakamura, Tsutomu; Arima-Yoshida, Fumiko; Sakaue, Fumika; Nasu-Nishimura, Yukiko; Takeda, Yasuko; Matsuura, Ken; Akshoomoff, Natacha; Mattson, Sarah N; Grossfeld, Paul D; Manabe, Toshiya; Akiyama, Tetsu

2016-03-16

Jacobsen syndrome (JBS) is a rare congenital disorder caused by a terminal deletion of the long arm of chromosome 11. A subset of patients exhibit social behavioural problems that meet the diagnostic criteria for autism spectrum disorder (ASD); however, the underlying molecular pathogenesis remains poorly understood. PX-RICS is located in the chromosomal region commonly deleted in JBS patients with autistic-like behaviour. Here we report that PX-RICS-deficient mice exhibit ASD-like social behaviours and ASD-related comorbidities. PX-RICS-deficient neurons show reduced surface γ-aminobutyric acid type A receptor (GABAAR) levels and impaired GABAAR-mediated synaptic transmission. PX-RICS, GABARAP and 14-3-3ζ/θ form an adaptor complex that interconnects GABAAR and dynein/dynactin, thereby facilitating GABAAR surface expression. ASD-like behavioural abnormalities in PX-RICS-deficient mice are ameliorated by enhancing inhibitory synaptic transmission with a GABAAR agonist. Our findings demonstrate a critical role of PX-RICS in cognition and suggest a causal link between PX-RICS deletion and ASD-like behaviour in JBS patients.

PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking

PubMed Central

Nakamura, Tsutomu; Arima-Yoshida, Fumiko; Sakaue, Fumika; Nasu-Nishimura, Yukiko; Takeda, Yasuko; Matsuura, Ken; Akshoomoff, Natacha; Mattson, Sarah N.; Grossfeld, Paul D.; Manabe, Toshiya; Akiyama, Tetsu

2016-01-01

Jacobsen syndrome (JBS) is a rare congenital disorder caused by a terminal deletion of the long arm of chromosome 11. A subset of patients exhibit social behavioural problems that meet the diagnostic criteria for autism spectrum disorder (ASD); however, the underlying molecular pathogenesis remains poorly understood. PX-RICS is located in the chromosomal region commonly deleted in JBS patients with autistic-like behaviour. Here we report that PX-RICS-deficient mice exhibit ASD-like social behaviours and ASD-related comorbidities. PX-RICS-deficient neurons show reduced surface γ-aminobutyric acid type A receptor (GABAAR) levels and impaired GABAAR-mediated synaptic transmission. PX-RICS, GABARAP and 14-3-3ζ/θ form an adaptor complex that interconnects GABAAR and dynein/dynactin, thereby facilitating GABAAR surface expression. ASD-like behavioural abnormalities in PX-RICS-deficient mice are ameliorated by enhancing inhibitory synaptic transmission with a GABAAR agonist. Our findings demonstrate a critical role of PX-RICS in cognition and suggest a causal link between PX-RICS deletion and ASD-like behaviour in JBS patients. PMID:26979507

Paroxysmal ocular movements - an early sign in Glut1 deficiency Syndrome.

PubMed

Reis, Sofia; Matias, Joana; Machado, Raquel; Monteiro, José Paulo

2018-05-05

The authors describe a 3-year-old female, diagnosed with GLUT1 deficiency Syndrome, with a previously unreported mutation in exon 7 of the SLC2A1 gene: c.968_972 + 3del P. (Val323Alafs*53), characterized by a classic phenotypic of acquired microcephaly, developmental delay, ataxia, spasticity, and epilepsy. Ketogenic diet was started at the age of 30 months with epilepsy improvement. She presented paroxysmal ocular movements in the first 12 months of life, recently defined as "aberrant gaze saccades", that are present in the early phase of visual system development, being one of the first disease signs, but easily disregarded. Recognizing these particular ocular movements would allow an early diagnosis, followed by ketogenic diet implementation, improving significantly the prognosis and the neurological development of those children.

[Constitutional mismatch repair-deficiency syndrome (CMMR-D) - a case report of a family with biallelic MSH6 mutation].

PubMed

Ilenčíková, D

2012-01-01

This work gives comprehensive information about new recessively inherited syndrome characterized by development of childhood malignancies. Behind this new described syndrome, called Constitutional mismatch repair-deficiency syndrome (CMMR-D), there are biallelic mutations in genes, which cause adult cancer syndrom termed Lynch syndrom (Hereditary non-polyposis cancer syndrom-HNPCC) if they are heterozygous mutations. Biallelic germline mutations of genes MLH1, MSH2, MSH6 and PMS2 in CMMR-D are characterized by increased risk of hematological malignancies, atypical brain tumors and early onset of colorectal cancers. An accompanying manifestation of the disease are skin spots with diffuse margins and irregular pigmentation reminiscent of Café au lait spots of NF1. This paper reports a case of a family with CMMR-D caused by novel homozygous MSH6 mutations leading to gliomatosis cerebri, T-ALL in an 11-year-old female and glioblastoma multiforme in her 10-year-old brother, both with rapid progression of the diseases. A literature review of brain tumors in CMMR-D families shows that they are treatment-resistant and lead to early death. Therefore, this work highlights the importance of early identification of patients with CMMR-D syndrome - in terms of initiation of a screening program for early detection of malignancies as well as early surgical intervention.

Antiplatelet and invasive treatment in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency and acute coronary syndrome. The safety of aspirin.

PubMed

Kafkas, N V; Liakos, C I; Mouzarou, A G

2015-06-01

Aspirin is an important drug in acute coronary syndromes (ACS) and percutaneous coronary interventions (PCI). However, its use is contraindicated in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency (risk for haemolytic anaemia). We report the management of 2 patients with class II G6PD deficiency and non-ST-segment elevation ACS (NSTE-ACS). The two patients were safely and efficiently treated with dual antiplatelet treatment (DAPT, aspirin plus ticagrelor) and PCI using new-generation drug-eluting stent (DES) despite G6PD deficiency. NSTE-ACS management with DAPT and DES is probably safe and effective in class II G6PD-deficient patients. © 2015 John Wiley & Sons Ltd.

Epidemiology of SHOX deficiency.

PubMed

Nicolosi, A; Caruso-Nicoletti, M

2010-06-01

Deletion of short stature homeobox-containing (SHOX) gene, in the pseudoautosomal region (PAR1) of X and Y chromosomes, is an important cause of short stature. Homozygous loss of SHOX results in the more severe Langer mesomelic dysplasia, while SHOX haploinsufficiency cause a wide spectrum of short stature phenotypes, including patients with Turner syndrome, Leri Weill dyschondrosteosis (LWD), and idiopathic short stature (ISS). In Turner syndrome, haploinsufficiency of SHOX gene, as well as short stature, are present in 100%; nevertheless, SHOX deficiency accounts for only two-thirds of Turner patients' short stature. In LWD the prevalence of SHOX gene anomalies varies from 56% to 100%. This wide range might be due to different factors such as selection criteria of patients, sample size, and method used for screening SHOX mutations. The real challenge is to establish the prevalence of SHOX deficiency in ISS children given that published studies have reported this association with a very broad frequency range varying from 1.5% to 15%. An important variable in these studies is represented by the method used for screening SHOX mutations and sometimes by differences in patient selection. Short stature is present by definition in 3 out of 100 subjects; if we consider a frequency of SHOX defects of 3% among ISS, we should expect a population prevalence of 1 in 1000. This prevalence would be higher than that of GH deficiency (1:3,500) and of Turner syndrome (1:2,500 females), suggesting that SHOX deficiency could be one of the most frequent monogenetic causes of short stature.

Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies

ClinicalTrials.gov

2018-04-24

SCID; Omenn's Syndrome; Reticular Dysgenesis; Wiskott-Aldrich Syndrome; Bare Lymphocyte Syndrome; Common Variable Immunodeficiency; Chronic Granulomatous Disease; CD40 Ligand Deficiency; Hyper IgM Syndrome; X-linked Lymphoproliferative Disease; Hemophagocytic Lymphohistiocytosis; Griscelli Syndrome; Chediak-Higashi Syndrome; Langerhan's Cell Histiocytosis

Use of etanercept in human immunodeficiency virus (HIV) and acquired immunodeficiency syndrome (AIDS) patients.

PubMed

Ting, Patricia T; Koo, John Y

2006-06-01

Etanercept (Enbrel, Amgen, Thousand Oaks, CA), a soluble p75 tumor necrosis factor receptor:FC (TNFR:FC) fusion protein for plasma cytokines, specifically tumor necrosis factor-alpha (TNF-alpha), is used in the treatment of immune-mediated rheumatic diseases. To our knowledge, the use of etanercept in patients with human immunodeficiency virus (HIV) and acquired immunodeficiency syndrome (AIDS) is relatively uncommon. The main purpose of this short review is to examine the safety of etanercept in patients with HIV/AIDS. A Medline search was conducted using the keywords etanercept and HIV and/or AIDS for any published articles between 1966 to the present (September 2004). A case report, one case series, and one clinical trial pertained to the use of etanercept in HIV patients. No reports were found on the use of etanercept in AIDS. In addition, two case reports were found documenting the use of infliximab in HIV patients. Preliminary reports indicate that the administration of etanercept does not appear to increase the morbidity or mortality rates in HIV. The inhibition of TNF-alpha may actually improve the symptoms of HIV/AIDS-associated aphthous ulcers, cachexia, dementia, fatigue, and fever, as well as help manage concomitant rheumatic diseases and psoriasis. The use of etanercept shows promise for applications in disease management in patients with HIV/AIDS. Continued research efforts are necessary to establish the long-term safety and efficacy of etanercept and other biologic agents in this patient population.

A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes.

PubMed

Thiffault, Isabelle; Saunders, Carol; Jenkins, Janda; Raje, Nikita; Canty, Kristi; Sharma, Mukta; Grote, Lauren; Welsh, Holly I; Farrow, Emily; Twist, Greyson; Miller, Neil; Zwick, David; Zellmer, Lee; Kingsmore, Stephen F; Safina, Nicole P

2015-05-07

Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage, often leading to immunodeficiency, growth retardation and increased risk of malignancy. We performed exome sequencing on a girl with a suspected chromosome instability syndrome that manifested as growth retardation, microcephaly, developmental delay, dysmorphic features, poikiloderma, immune deficiency with pancytopenia, and myelodysplasia. She was homozygous for a previously reported splice variant, c.4444 + 3A > G in the POLE1 gene, which encodes the catalytic subunit of DNA polymerase E. This is the second family with POLE1-deficency, with the affected individual demonstrating a more severe phenotype than previously described.

Dopamine homeostasis: brain functional connectivity in reward deficiency syndrome.

PubMed

Febo, Marcelo; Blum, Kenneth; Badgaiyan, Rajendra D; Baron, David; Thanos, Panayotis K; Colon-Perez, Luis M; Demortrovics, Zsolt; Gold, Mark S

2017-01-01

Reward deficiency syndrome (RDS) was first proposed by Kenneth Blum in 1995 to provide a clinically relevant and predictive term for conditions involving deficits in mesocorticolimbic dopamine function. Genetic, molecular, and neuronal alterations in key components of this circuitry contribute to a reward deficit state that can drive drug-seeking, consumption, and relapse. Among the dysfunctions observed in RDS are dysregulated resting state networks, which recently have been assessed in detail in chronic drug users by, positron emission tomography, functional magnetic resonance imaging, and functional connectivity analysis. A growing number of studies are helping to determine the putative roles of dopamine and glutamatergic neurotransmission in the regulation of activity in resting state networks, particularly in brain reward circuitry affected in drug use disorders. Indeed, we hypothesize in the present review that loss of homeostasis of these systems may lead to 'unbalanced' functional networks that might be both cause and outcome of disrupted synaptic communication between cortical and subcortical systems essential for controlling reward, emotional control, sensation seeking, and chronic drug use.

Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation

PubMed Central

Asakura, Yumi; Muroya, Koji; Hanakawa, Junko; Sato, Takeshi; Aida, Noriko; Narumi, Satoshi; Hasegawa, Tomonobu; Adachi, Masanori

2015-01-01

Abstract Recent reports have indicated the role of the prokineticin receptor 2 gene (PROKR2) in the etiology of congenital hypopituitarism, including septo-optic dysplasia and Kallmann syndrome. In the present study, using next-generation targeted sequencing, we identified a novel heterozygous PROKR2 variant (c.742C>T; p.R248W) in a female patient who had combined pituitary hormone deficiency (CPHD), morning glory syndrome and a severely malformed pituitary gland. No other mutation was present in 27 genes related to hypogonadotropic hypogonadism, pituitary hormone deficiency and optic nerve malformation. The substituted amino acid was located on the third intracellular loop of the PROKR2 protein, which is a G protein-coupled receptor. Computational analyses with two programs (SIFT and PolyPhen-2) showed that the substitution was deleterious to PROKR2 function. The p.R248W mutation was transmitted from the patient’s mother, who had a slightly delayed menarche. Collectively, we provide further genetic evidence linking heterozygous PROKR2 mutations and the development of CPHD. PMID:25678757

Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation.

PubMed

Asakura, Yumi; Muroya, Koji; Hanakawa, Junko; Sato, Takeshi; Aida, Noriko; Narumi, Satoshi; Hasegawa, Tomonobu; Adachi, Masanori

2015-01-01

Recent reports have indicated the role of the prokineticin receptor 2 gene (PROKR2) in the etiology of congenital hypopituitarism, including septo-optic dysplasia and Kallmann syndrome. In the present study, using next-generation targeted sequencing, we identified a novel heterozygous PROKR2 variant (c.742C>T; p.R248W) in a female patient who had combined pituitary hormone deficiency (CPHD), morning glory syndrome and a severely malformed pituitary gland. No other mutation was present in 27 genes related to hypogonadotropic hypogonadism, pituitary hormone deficiency and optic nerve malformation. The substituted amino acid was located on the third intracellular loop of the PROKR2 protein, which is a G protein-coupled receptor. Computational analyses with two programs (SIFT and PolyPhen-2) showed that the substitution was deleterious to PROKR2 function. The p.R248W mutation was transmitted from the patient's mother, who had a slightly delayed menarche. Collectively, we provide further genetic evidence linking heterozygous PROKR2 mutations and the development of CPHD.

[Study on the Chinese medical syndrome distribution of ulcerative colitis].

PubMed

Lu, Yong-Hui; Cong, Long-Ling

2012-04-01

To study on the Chinese medicine (CM) syndrome distribution of ulcerative colitis (UC) and the distribution of CM syndrome types at different staging periods. From March 2007 to April 2010, 110 UC out- or inpatients at the Department of Digestive Diseases of Guangzhou Municipal Hospital of Traditional Chinese Medicine were recruited. The patients' symptoms were calculated. The systematic clustering was used. The symptom was taken as the variable in the clustering. The syndrome types were confirmed according to the clustering results. The syndrome typing was performed and its results were analyzed. There were 64 main symptoms in UC patients, including diarrhea, mushy stool, watery stool, abdominal pain, and bloody stool. Seventy cases belonged to the active period and 40 to the remission period. The UC syndrome types were sequenced from high to low as the dampness-heat of Dachang syndrome, Pi-Wei qi deficiency syndrome, Gan depression and Pi deficiency syndrome, Pi-Shen yang deficiency syndrome, blood stasis in the intestinal collaterals syndrome, yin and blood deficiency syndrome. There was statistical difference in the case number among different syndrome types (P < 0.05). In the active period, dominated were the dampness-heat of Dachang syndrome (28 cases, 25.5%), Gan depression and Pi deficiency syndrome (14 cases, 12.7%), and blood stasis in the intestinal collaterals syndrome (10 cases, 9.0%). In the remission period, dominated were Pi-Wei qi deficiency syndrome (18 cases, 16.4%) and Pi-Shen yang deficiency syndrome (10 cases, 9.0%), showing statistical difference (P<0.05). The typical symptoms of patients of the dampness-heat of Dachang syndrome were sequenced from high to low as yellow tongue fur (31 cases, 28.1%), tenesmus (26 cases, 23.6%), mucopurulent bloody stool (25 cases, 227%), diarrhea (24 cases, 21.8%), anal burning (24 cases, 21.8%), watery stool (21 cases, 19.0%), abdominal pain (19 cases, 17.2%), red tongue (19 cases, 17.2%), and greasy tongue

Peripheral kynurenine-3-monooxygenase deficiency as a potential risk factor for metabolic syndrome in schizophrenia patients.

PubMed

Oxenkrug, Gregory; van der Hart, Marieke; Roeser, Julien; Summergrad, Paul

2017-01-01

Increased predisposition of schizophrenia patients (SP) to development of obesity and insulin resistance suggested common signaling pathway between metabolic syndrome (MetS) and schizophrenia. Deficiency of kynurenine-3-monooxygenase (KMO), enzyme catalyzing formation of 3-hydroxykynurenine (3-HK) from kynurenine (Kyn), a tryptophan (Trp) metabolite, might contribute to development of MetS as suggested by non-expression of KMO genes in human fat tissue and elevated serum concentrations of Kyn and its metabolites, kynurenic (KYNA) and anthranilic (ANA) acids, in diabetic patients and Zucker fatty rats (ZFR). Markers of KMO deficiency: decreased 3-HK and elevated Kyn, KYNA and ANA, were observed in brains and spinal fluids of SP, and in brains and serum of experimental animals with genetically- or pharmacologically-induced KMO deficiency. However, elevated concentrations of ANA and decreased 3-HK were reported in serum of SP without concurrent increase of Kyn and KYNA. Present study aimed to re-assess serum Kyn metabolites (HPLC-MS) in a sub-group of SP with elevated KYNA. We found increased Kyn concentrations (by 30%) and Kyn:Trp ratio (by 20%) in serum of SP with elevated KYNA concentrations (by 40%). Obtained results and our previous data suggest that peripheral KMO deficiency might be manifested by, at least, two different patterns: elevated ANA with decreased 3-HK; and elevated KYNA and KYN. The latter pattern was previously described in type 2 diabetes patients and might underline increased predisposition of SP to development of MetS. Assessment of peripheral KMO deficiency might identify SP predisposed to MetS. Attenuation of the consequences of peripheral KMO deficiency might be a new target for prevention/treatment of obesity and diabetes in SP.

Northern infant syndrome: a deficiency state?

PubMed

Godel, J C; Hart, A G

1984-08-01

A syndrome is described that affected 16 Indian and Inuit infants roughly 3 months old, most of whom were born in settlements in the Canadian Arctic. The infants presented with a clinical picture that included hepatitis, hemolytic anemia, rickets and respiratory distress, a combination that resembled a syndrome first described in malnourished infants at the turn of the century by von Jaksch and Luzet. The clinical course was self-limited, and all the infants survived without sequelae. The cause of the syndrome was not determined; no infectious agents were discovered. However, low levels of vitamins A, C, D and E were found in a few infants in whom assays were done. The implications of these findings and their relation to the possible cause of this "northern infant syndrome" are discussed.

Women and HIV/AIDS in the kingdom of Swaziland: culture and risks.

PubMed

Mathunjwa, Tengetile R; Gary, Faye A

2006-12-01

In Swaziland, a polygamous society in Southern Africa, the prevalence of the human immune virus/acquired immune deficiency syndrome (HIV/AIDS) is continuing to proliferate at an alarming rate. In 1992 the prevalence rate was 3.9%. However in 12 years, by 2004, the prevalence rate had reached 42.6%. This article explores some of the traditional cultural practices and experiences that increase Swazi women's vulnerability to HIV/AIDS. The traditional cultural practices fall into four categories: (1) socialization and the roles of women, (2) the minority status of women, (3) the practice of a dowry, and (4) the wife as an inheritance. The women's experiences include the Swazi men's beliefs in the virginity cure myth, the women's extreme poverty, and the Swazi men who are migrant workers in neighboring states. This article concludes with recommendations for public policy and for future research within the context of Swazi culture.

Psychosocial Factors of Health Professionals’ Intention to Use a Decision Aid for Down Syndrome Screening: Cross-Sectional Quantitative Study

PubMed Central

Abbasgholizadeh Rahimi, Samira; Lépine, Johanie; Croteau, Jordie; Robitaille, Hubert; Giguere, Anik MC; Wilson, Brenda J; Rousseau, François; Lévesque, Isabelle

2018-01-01

Background Decisions about prenatal screening for Down syndrome are difficult for women, as they entail risk, potential loss, and regret. Shared decision making increases women’s knowledge of their choices and better aligns decisions with their values. Patient decision aids foster shared decision making but are rarely used in this context. Objective One of the most promising strategies for implementing shared decision making is distribution of decision aids by health professionals. We aimed to identify factors influencing their intention to use a DA during prenatal visit for decisions about Down syndrome screening. Methods We conducted a cross-sectional quantitative study. Using a Web panel, we conducted a theory-based survey of health professionals in Quebec province (Canada). Eligibility criteria were as follows: (1) family physicians, midwives, obstetrician-gynecologists, or trainees in these professions; (2) involved in prenatal care; and (3) working in Quebec province. Participants watched a video depicting a health professional using a decision aid during a prenatal consultation with a woman and her partner, and then answered a questionnaire based on an extended version of the theory of planned behavior, including some of the constructs of the theoretical domains framework. The questionnaire assessed 8 psychosocial constructs (attitude, anticipated regret, subjective norm, self-identity, moral norm, descriptive norm, self-efficacy, and perceived control), 7 related sets of behavioral beliefs (advantages, disadvantages, emotions, sources of encouragement or discouragement, incentives, facilitators, and barriers), and sociodemographic data. We performed descriptive, bivariate, and multiple linear regression analyses to identify factors influencing health professionals’ intention to use a decision aid. Results Among 330 health professionals who completed the survey, 310 met the inclusion criteria: family physicians, 55.2% (171/310); obstetrician