Tag Archives: family history

The importance of early diagnosis and surveillance in Peutz-Jeghers Syndrome: A case report

DOI: 10.2478/amma-2023-0017

Introduction: Peutz-Jeghers syndrome is a rare autosomal dominant inherited disorder characterized by hamartomatous intestinal polyps and mucocutaneous pigmentation. Most cases appear to be linked to the mutation of the STK11 gene. Patients are at a lifetime risk of gastrointestinal and non-gastrointestinal cancers.
Case Presentation: The present study offers the case of this rare disorder in a young woman revealed by jejunal obstruction caused by intussusception. A 32-year-old woman was referred to the surgical department with symptoms suggestive of an obstructive syndrome. On examination, there were multiple perioral pigmented lesions. An urgent exploratory laparotomy revealed bowel obstruction caused by an intussusception with a large polyp. The patient suffered another similar episode 4 years before leading to the diagnosis of Peutz-Jeghers Syndrome, however she was under no surveillance. Patients with pigmented lesions and a family member suffering from the mentioned syndrome should perform endoscopy and genetic tests to diagnose early and avoid complications.
Conclusion: Peutz-Jeghers Syndrome is difficult to treat due to its nonspecific symptomatology and late diagnosis. Life-threatening complications such as intussusception and various types of cancer are unanticipated. It is vital to diagnose and perform routine screening, which will make it possible to prolong the survival of many patients.

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Diet, Smoking and Family History as Potential Risk Factors in Acne Vulgaris – a Community-Based Study

DOI: 10.1515/amma-2016-0007

Objective. This study aimed to evaluate the effects of practices and attitudes towards lifestyle in adolescence as risk or protective factors, for both the acne occurrence and lesions’ severity.
Methods. A cross-sectional study based on a self-reported questionnaire was conducted during 4 months on 148 high school students, aged 16-20 years, in a high school community of Tîrgu Mureș. Acne prevalence and severity, demographic and anthropometric characteristics, the family history of acne vulgaris, smoking behavior and the weekly intake of certain food categories supposed to increase the risk of acne vulgaris were evaluated. Statistical analysis was performed in terms of Odds ratio, Confidence Interval and Chi-square (p<0.05) methods.
Results. In the investigated community, acne prevalence was found of 47.30%, while 78 subjects (control group) had no facial acne lesions. In acne group: 57.1% had family history of acne, 62.9% were smokers, 22.9% were overweight or obese and 84.3% did not receive any dietary information from specialists. 41.4% were not fish consumers, while 74.3% rarely or never were eating fruits and vegetables. Statistically significant differences between the two analyzed groups were found in terms of sweets, carbonated drinks, dietary fat, white bread, fish, fruits and vegetables weekly intake.
Conclusions. Family history, smoking behavior, excessive dietary fat, sweets, carbonated drinks and white bread could be considered as risk factors in acne vulgaris. An increased weekly intake of fish, vegetables and fruits, may have a protective effect in acne development or severity.

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