Galactosaemia

1987 ◽  
Vol 5 (3-4) ◽  
pp. 175-188 ◽  
Author(s):  
L B. Sardharwalla ◽  
J. E. Wraith
Keyword(s):  
High Risk ◽  
Early Diagnosis ◽  
Mental Development ◽  
Diagnosis And Treatment ◽  
Early Age ◽  
Biochemical Genetics ◽  
Classical Galactosaemia ◽  
Eventual Outcome ◽  
Very High

This paper reviews galactosaemia and describes the experience of the Willink Biochemical Genetics Unit in the management of classical galactosaemia. Galactokinase and UDPgalactose-4-epimerase deficiency are dealt with briefly. The former disorder is readily treated with a galactose free diet and if this is started early in life, the only complication, cataracts, is avoided. Epimerase deficiency is a relatively ‘new’ disorder and little is known about the eventual outcome of affected patients. Early observations suggest that the prognosis is likely to be poor even in those patients diagnosed and treated soon after birth. Classical galactosaemia leads to a number of long term complications. The prognosis for normal mental development in affected patients is poor. Unfortunately this does not appear to be reversible by early diagnosis and treatment and whilst every effort should be made to establish an early diagnosis our experience suggests that there is no difference in the ultimate mental development between those who are detected within the first two weeks of life and those before the age of six weeks. In addition female homozygotes are at a very high risk of developing ovarian failure at an early age.

Long-term outcome for very high-risk prostate cancer treated primarily with a triple modality approach to include permanent interstitial brachytherapy

Brachytherapy ◽  
2012 ◽  
Vol 11 (4) ◽  
pp. 250-255 ◽  
Author(s):  
Nathan Bittner ◽  
Gregory S. Merrick ◽  
Wayne M. Butler ◽  
Robert W. Galbreath ◽  
Jonathan Lief ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
High Risk ◽  
Interstitial Brachytherapy ◽  
Term Outcome ◽  
Long Term Outcome ◽  
High Risk Prostate Cancer ◽  
Risk Prostate Cancer ◽  
Modality Approach ◽  
Very High

scholarly journals Tubocutaneous Fistula

2015 ◽  
Vol 2015 ◽  
pp. 1-2
Author(s):  
Krishnaveni Nayini ◽  
Clive Gie
Keyword(s):  
Early Diagnosis ◽  
Pelvic Inflammatory Disease ◽  
Inflammatory Disease ◽  
Fistulous Tract ◽  
Rare Condition ◽  
Diagnosis And Treatment ◽  
Case Presentation ◽  
Child Birth ◽  
The Right

Introduction. Tubocutaneous fistula is a very rare condition; most cases described in the literature are secondary to endometriosis, tuberculosis, and complications of child birth and gynecological operations.Case Presentation. We report a case of 40-year-old woman who presented with tubocutaneous fistula secondary to pelvic inflammatory disease which was diagnosed in the setting of persistent discharging wound in the right groin.Conclusion. Tubocutaneous fistula is a rare condition. Salpingectomy and resection of fistulous tract is the treatment of choice as is treating the underlying cause. Early diagnosis and treatment of these patients are essential for avoiding long term complications.

Long-Term Outcome for Very High Risk Prostate Cancer Treated With Permanent Interstitial Brachytherapy

Brachytherapy ◽  
2011 ◽  
Vol 10 ◽  
pp. S15
Author(s):  
Nathan Bittner ◽  
Gregory S. Merrick ◽  
Wayne M. Butler ◽  
Robert W. Galbreath ◽  
Jonathan Leif ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
High Risk ◽  
Interstitial Brachytherapy ◽  
Term Outcome ◽  
Long Term Outcome ◽  
High Risk Prostate Cancer ◽  
Risk Prostate Cancer ◽  
Very High

Late diagnosis of human immunodeficiency virus infections in high-risk groups in Karachi, Pakistan

2018 ◽  
Vol 29 (14) ◽  
pp. 1400-1406
Author(s):  
Zahra Hasan ◽  
Sharaf Shah ◽  
Rumina Hasan ◽  
Shoaib Rao ◽  
Manzoor Ahmed ◽  
...  
Keyword(s):  
Human Immunodeficiency Virus ◽  
High Risk ◽  
Early Diagnosis ◽  
Hiv Infection ◽  
Hiv Infections ◽  
Risk Groups ◽  
Newly Diagnosed ◽  
Immunodeficiency Virus ◽  
Hiv 1

Human immunodeficiency virus (HIV) infection prevalence in Pakistan has been increasing in high-risk groups, including people who inject drugs (PWID) and transgender hijra sex workers (TG-HSWs) nationwide. Effective control of HIV requires early diagnosis of the infection. We investigated recency of HIV infections in newly-diagnosed cases in PWID and TG-HSWs. This was an observational study with convenience sampling. Overall, 210 HIV-positive subjects comprising an equal number of PWID and TG-HSWs were included. Antibody avidity was tested using the Maxim HIV-1 Limiting Antigen Avidity (LAg) EIA (Maxim Biomedical, Inc. Rockville, Maryland, USA). The mean age of study subjects was 29.5 years: PWID, 28.5 years and TG-HSWs, 30.4 years. Study subjects were married, 27%, or unmarried. Eighteen percent of individuals had recently-acquired HIV infections: 19% of PWID and 17% of TG-HSWs. Eighty-two percent of individuals had long-term HIV infections: 81% of PWID and 83% of TG-HSWs. This is the first study identification of recent HIV-1 infections in Pakistan. We show that most newly-diagnosed HIV patients in the high-risk groups studied had long-term infections. There is an urgent need for intervention in these groups to facilitate early diagnosis and treatment of HIV infection to reduce transmission in Pakistan.

THYMOSIN IN THE EARLY DIAGNOSIS AND TREATMENT OF HIGH RISK HOMOSEXUALS AND HEMOPHILIACS WITH AIDS-LIKE IMMUNE DYSFUNCTION

1984 ◽  
Vol 437 (1 Acquired Immu) ◽  
pp. 88-97 ◽  
Author(s):  
Paul H. Naylor ◽  
Richard S. Schulof ◽  
Marcelo B. Sztein ◽  
Thomas J. Spira ◽  
Paul R. McCurdy ◽  
...  
Keyword(s):  
High Risk ◽  
Early Diagnosis ◽  
Immune Dysfunction ◽  
Diagnosis And Treatment

Chemotherapy for poor prognosis non seminomatous germ cell tumors (NSGCT): Should doses be reduced at first cycle to prevent acute respiratory distress syndrome (ARDS) in patients with multiple lung metastases?

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 5087-5087 ◽  
Author(s):  
K. Fizazi ◽  
C. Massard ◽  
S. Postel-Vinay ◽  
B. Escudier ◽  
S. Culine ◽  
...  
Keyword(s):  
High Risk ◽  
Poor Prognosis ◽  
Lung Metastases ◽  
Germ Cell Tumors ◽  
Early Death ◽  
Visceral Metastases ◽  
Early Tumor ◽  
Long Term Survivors ◽  
Very High

5087 Background: Patients with multiple lung metastases from NSGCT and dyspnea at presentation are at high risk of ARDS and death in the first days after chemotherapy induction. This entity has been designated the “choriocarcinoma syndrome” or “very high risk NSGCT”. It is linked to acute intra-alveolar hemorrhage related to early tumor necrosis, which in turn, may be complicated by pulmonary infection promoted by neutropenia. To try to avoid this complication, The policy to manage these patients was changed at Institut Gustave Roussy in 1997. Methods: Data from all patients with lung metastases from NSGCT and dyspnea or a pO2 < 80 and treated between1980–2006 in our institution were collected. Patients were treated in a specialized intensive care unit. From 1980–1997, the first cycle of chemotherapy consisted in a full dose regimen. After 1997, it consisted in a 3-day reduced induction regimen of EP (cisplatin 20 mg/m2/day and etoposide 100 mg/m2/day), with bleomycin and two additional days of EP being postponed to day 15, and the regular BEP regimen being started at day 21. Results: 25 patients with a poor risk NSGCT according to the IGCCCG classification had extensive lung metastases plus either dyspnea at presentation (n=6) or a pO2<80 (n=2), or both criteria (n=17). Median age was 30 years (range 18–49). Median hCG was 200,000 UI (range 11–8,920,000) and 18/25 (72%) patients also had non-pulmonary visceral metastases. During the 1980–1997 period, 13/15 patients (87%) developed ARDS, of whom 10 died, and only 4/15 (27%) patients were long-term survivors. In contrast, during the 1997-2006 period, only 3/10 patients (30%) developed ARDS, of whom 2 died, and 4/10 (40%) survived. Conclusions: Reducing doses of chemotherapy during the first cycle of chemotherapy for poor-prognosis NSGCT with extensive and symptomatic lung metastases seems to prevent the risk of early death due to ARDS and should therefore be recommended. No significant financial relationships to disclose.

Sign in / Sign up

Export Citation Format

Share Document