[Description of a new disease: pancreatic lithiasis with radiolucent calculi].

Ann Gastroenterol Hepatol (Paris)

INSERM U 315, Marseille.

Published: October 1992

118 patients presenting with pancreatic lithiasis were consecutively observed in our service. They underwent both an endoscopic pancreatography and god plain films of the abdomen. Calculi were classified in 3 groups: 1) Radiolucent calculi (17 cases, 5 females; 4 hereditary cases) are build up of amorphous residues of lithostathine S. They are not related to either alcohol, diet or tobacco. 2) Target calculi (27 cases, 4 females; 3 hereditary cases) have a radiolucent core as in 1 and a peripheral calcification. They are a late evolutionary stage of radiolucent lithiasis. The frequency of females and of hereditary cases is significantly greater in form 1 + 2 than in form 3. These two forms are a newly described disease without relationship with nutrition, alcohol or tobacco but the peripheral calcification of radiolucent calculi is favoured by alcohol and tobacco. This disease could be hereditary. 3) Calcic lithiasis (74 cases, 8 females, 2 hereditary cases) is the most frequent form of pancreatic lithiasis. Its cause is nutritional.

Download full-text PDF

Source

Publication Analysis

Top Keywords

females hereditary
16
hereditary cases
16
pancreatic lithiasis
12
cases females
12
radiolucent calculi
8
calculi cases
8
peripheral calcification
8
alcohol tobacco
8
cases
7
lithiasis
5

Similar Publications

Mental Health Aspects of Genetic Screening and Testing in Obstetrics and Gynecology.

Obstet Gynecol Clin North Am

March 2025

Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, UC Davis Health, Sacramento, CA, USA. Electronic address:

Availability of genetic testing and screening options has advanced significantly, and increasingly becoming included in obstetric (OB) and gynecologic practices. Advanced technologies have caused genetic screening to become more complex. Genetic screening is recommended for all pregnant patients and is routinely offered in OBs and gynecology.

View Article and Find Full Text PDF

Background: Hereditary transthyretin (ATTRv) amyloidosis is a rare, adult-onset autosomal-dominant disorder caused by pathogenic variants in the transthyretin (TTR) gene. Data about relevant variants in specific populations and typical initial manifestations may facilitate early diagnosis and treatment. We here describe the genetic landscape of ATTRv amyloidosis in Israel.

View Article and Find Full Text PDF

Clinicopathologic stratification demonstrates survival differences between endometrial carcinomas with mismatch repair deficiency and no specific molecular profile: a cohort study.

Int J Gynecol Cancer

January 2025

Helsinki University Hospital and University of Helsinki, Department of Obstetrics and Gynecology, Helsinki, Finland; University of Helsinki, Faculty of Medicine, Helsinki University Hospital and Research Program in Applied Tumor Genomics, Department of Pathology, Helsinki, Finland.

Objective: Endometrial carcinomas with mismatch repair deficiency (MMRd) and no specific molecular profile (NSMP) are considered to have intermediate prognoses. However, potential prognostic differences between these molecular subgroups remain unclear due to the lack of standardized control for clinicopathologic factors. This study aims to evaluate outcomes of MMRd and NSMP endometrial carcinomas across guideline-based clinicopathologic risk groups.

View Article and Find Full Text PDF

Background: Patients who actively engage in their medical decision-making processes can experience better health outcomes. This exploratory study aimed to identify predictors of preferred and actual roles in decision-making in healthy women with BRCA1/2 pathogenic variants (PVs).

Methods: Women with BRCA1/2 PVs without a history of breast and/or ovarian cancer were recruited in six centres across Germany.

View Article and Find Full Text PDF

Amelogenesis imperfecta (AI) is a genetic disorder that affects both primary and permanent teeth. It primarily manifests as developmental disorders of enamel. The condition occurs independently of other systemic disorders and is caused by mutations in genes responsible for enamel formation, inherited in autosomal dominant, autosomal recessive or X-linked patterns.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!