background: premature ovarian failure (pof) is a disorder of multi causal etiology. autoimmunity has been proposed as a mechanism for some cases of ovarian follicle dysfunction which is evident in pof. the aim of this study was to identify the level of auto-antibodies in pof and familial pof patients. materials and methods: in this study, auto-antibodies including anti-ovarian antibody (aoa), a...

BACKGROUND Intra-abdominal desmoid tumors are usually slow growing and solitary, but multifocal desmoid tumors develop on rare occasions. Diagnosing desmoid tumors before histological examination of a surgical biopsy is often difficult. In particular, if a patient has a prior history of malignancy, it may be difficult to differentiate between these lesions and disease recurrence or metastasis. ...

This study explores the link between regular grandparental childcare and SARS-CoV-2 infection rates at level of German counties. In our analysis, we suggest that a region’s are shaped by region-, household- individual-specific parameters. We extensively draw on latter, exploring intra- extra-familial mechanisms fuelling individual contact frequency to test potential role in explaining overall r...

We describe a patient who was diagnosed with multiple tubulleuvillous adenomas focus of high-grade tubular dysplasia all over the colonic mucosa, discovered during colonoscopy performed an episode melena. Genetic testing has identified germline truncating mutation at codon (5q22.2) adenomatous polyposis (APC) gene. This is localized in alternately spliced region exon 12, which associated attenu...

Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder which displays considerable inter- and intra-familial variability in phenotypic expression. To evaluate the genetic component of variable expressivity in NF1, we examined the phenotypic correlations between affected relatives in 750 NF1 patients from 275 multiplex families collected through the NF-France Network. Twelve NF1-...

BACKGROUND As part of a collaborative linkage study, the authors obtained clinical and demographic data on 160 families in which more than one sibling was affected with a bipolar illness. The aim of the study was to identify clinical characteristics that had a high degree of familiality. METHOD Data on age at onset, gender, frequency of illness-episodes and proportion of manic to depressive e...

The assessment of reliability and construct validity for scales used to evaluate families is potentially limited because standard coefficients are not computed appropriately using the combined responses for family members due to their possible intra-familial correlation. In this paper, we describe and demonstrate the use of linear mixed modeling to compute generalizations of such coefficients f...

This paper examines parental reputation formation in intra-familial interactions. In a repeated two-stage game, children decide whether to drop out of high school or daughters decide whether to have births as teens and parents then decide whether to provide support to their children beyond age 18. Drawing on Milgrom and Roberts (1982) and Kreps and Wilson (1982), we show that, under certain con...

Familial Mediterranean fever, an autosomal recessive disorder, is a member of the periodic fever syndromes, and considered to be the most common cause of recurrent febrile episodes in children. It is important to understand the disorder as familial Mediterranean fever falls on a spectrum of various presentations; the recurrent episodes of familial Mediterranean fever may be so severe that the q...

Neurofibromatosis type 1 (NF1) is an autosomal dominantly inherited familial tumor syndrome. Benign tumors such as pilocytic astrocytoma, optic glioma make up the majority of intracranial neoplasms in patients with NF1. There have only been a handful of cases in which adult glioblastoma presented with NF1. A 32-year-old male presented with headache and radiological studies showing a high grade ...