Acute porphyrias: a German monocentric study of the biochemical, molecular genetic, and clinical data of 62 families

AbstractIn Germany, analyses of clinical and laboratory features of patients with acute porphyrias are only available for hereditary coproporphyria (HCP) but not with other acute porphyrias, acute intermittent porphyria (AIP) and variegate porphyria (VP). The aim of the study was to analyze a large cohort of patients with particular focus upon quality of life aspects. Sixty-two individuals from separate families with acute porphyrias (57 AIP, 5 VP) were included into an observational study collecting biochemical, genetic, and clinical data. A questionnaire was designed to complete anamnestic information and to assess the influence on quality of life. Most frequent signs and symptoms or laboratory abnormalities were abdominal colicky pain, red coloration of urine, and hyponatremia. Depression or anxiety was reported by 61% or 52% individuals, respectively. Fatigue was mentioned as the most quality of life-limiting symptom. In 59/61 patients, mutations could be identified. 44% (20/45) had to be admitted to an intensive care unit. Heme arginate was used in 64% (29/45) of patients for treatment of acute attacks at least once and in 33% for long-term treatment with high frequency of administration. Serum creatinine values increased in 47% (7/17) of the patients with recurrent attacks. Our analysis confirms a substantial influence of the diseases on the quality of life on patients. Percentages of urine discoloration and intensive care unit admissions were much higher than in other ...
Source: Annals of Hematology - Category: Hematology Source Type: research

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Background: Postpartum depression (PPD) affects one in seven women in the United States. Korean Americans are one of the six largest Asian American (AA) subgroups, representing 9% of the AA population in the United States. Women of Asian descent have not always been represented in studies of PPD. Purpose: The purpose of this study was to understand postpartum experiences, perceptions of PPD, and mental health help-seeking among Korean women living in the United States. Methods: Individual, face-to-face, semistructured interviews of Korean immigrant women, over age 18, who were able to read, write, and speak English...
Source: MCN: The American Journal of Maternal Child Nursing - Category: Nursing Tags: Feature Source Type: research
Background: African American women are more likely to experience preterm birth compared with White women. Social factors such as neighborhood disorder and experiences of racial discrimination, which disproportionately affect African American women, may partially explain these disparities. Purpose: The purpose of this study was to examine pregnant African American women's perceptions of neighborhood disorder, racial discrimination, and psychological distress and whether these concepts were viewed as influences on birth outcomes. Study Design and Methods: Using a mixed-methods approach, seven pregnant African America...
Source: MCN: The American Journal of Maternal Child Nursing - Category: Nursing Tags: Feature Source Type: research
Lara Mehmet, 10, who is just 3ft 1in tall due to an as-yet undiagnosed condition that has affected her growth, is now among four children picked by the Old Vic Theatre in London to play Tiny Tim.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
CASE SUMMARY: A 62-year-old previously healthy man presented with left lower quadrant pain and fever. Physical examination showed left lower quadrant peritonitis. Computed tomography scan showed a pelvic abscess with extraluminal air (Fig. 1). Intravenous antibiotics were started, and CT-guided percutaneous drainage was performed. The drain was removed 1 week after discharge. One week later, he presented with dysuria and pneumaturia and was started on antibiotics. Colonoscopy confirmed diverticulosis with no other mucosal abnormalities. He underwent a successful laparoscopic sigmoidectomy with colovesical fistula takedown.
Source: Diseases of the Colon and Rectum - Category: Gastroenterology Tags: Resident’s Corner Source Type: research
No abstract available
Source: Topics in Pain Management - Category: Anesthesiology Tags: CONTINUING EDUCATION ACTIVITY Source Type: research
No abstract available
Source: Topics in Pain Management - Category: Anesthesiology Tags: ARTICLE Source Type: research
No abstract available
Source: Topics in Pain Management - Category: Anesthesiology Tags: ARTICLE Source Type: research
No abstract available
Source: Topics in Pain Management - Category: Anesthesiology Tags: CE Quiz Source Type: research
In conclusion, the prepared LAF-loaded membrane is a novel formulation for the treatment of chronic and long-term pain.Graphical abstract
Source: Materials Science and Engineering: C - Category: Materials Science Source Type: research
Publication date: Available online 9 December 2019Source: Journal of Obsessive-Compulsive and Related DisordersAuthor(s): Or Brandes, Avital Stern, Guy DoronAbstractRelationship Obsessive–compulsive disorder (ROCD) is a dimension of Obsessive–compulsive disorder (OCD) focusing on close and intimate relationships. ROCD may focus on the relationship itself (i.e., relationship-centered) or the perceived flaws of the relationship partner (i.e., partner-focused). Partner-focused obsessions have been shown to center on domains such as intelligence, appearance, sociality, emotional regulation, competence and morality....
Source: Journal of Obsessive Compulsive and Related Disorders - Category: Psychiatry Source Type: research
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