Splenomegaly, sometimes of massive extent, occurs in a large number of hereditary diseases, some relatively prevalent and others, rare to ultra-rare. Because physicians are often unfamiliar with the less common disorders, patients may suffer because of diagnostic delay or diagnostic error and may undergo invasive, non-innocuous procedures such as splenectomy that are potentially avoidable were ...

For a family F of sets, let μ(F) denote the size of a smallest set in F that is not a subset of any other set in F , and for any positive integer r, let F (r) denote the family of r-element sets in F . We say that a family A is of Hilton-Milner (HM ) type if for some A ∈ A, all sets in A\{A} have a common element x / ∈ A and intersect A. We show that if a hereditary family H is compressed and μ...

Parathyroid carcinoma (PC) may occur as part of a complex hereditary syndrome or an isolated (i.e., non-syndromic) non-hereditary (i.e., sporadic) endocrinopathy. Studies of hereditary and syndromic forms of PC, which include the hyperparathyroidism-jaw tumor syndrome (HPT-JT), multiple endocrine neoplasia types 1 and 2 (MEN1 and MEN2), and familial isolated primary hyperparathyroidism (FIHP), ...

Interference RNAs are non-coding produced naturally o synthetically that temporarily inhibit the gene expression of specific genes. With this technology, it is possible to introduce a siRNA molecule against mRNA into cells and reduce synthesis protein encoded on mRNA. This novel strategy has been used by several researchers worldwide in medical area as treatment many hereditary acquired diseases.

Cholesterol is essential for neuronal physiology, both during development and in the adult life: as a major component of cell membranes and precursor of steroid hormones, it contributes to the regulation of ion permeability, cell shape, cell-cell interaction, and transmembrane signaling. Consistently, hereditary diseases with mutations in cholesterol-related genes result in impaired brain funct...

The association between Leber’s hereditary optic neuropathy and multiple sclerosis has encouraged the search for susceptibility genes in multiple sclerosis. This symbiotic relation is reversed in the paper by Inglese et al (this issue, pp 444–449) in which magnetic resonance (MR) techniques originally developed for studying multiple sclerosis were applied to patients with Leber’s hereditary opt...

CONTEXT Hereditary pancreatitis is the early onset form of chronic pancreatitis that is carried in an autosomal dominant pattern with variable penetrance. While 80% of hereditary pancreatitis has been shown to be due to a single mutation in the trypsinogen gene PRSS1, a number of hereditary pancreatitis families have no identified genetic cause for illness; thus no reliable screening options or...

CONTEXT In hereditary cancer syndrome families with an identified cancer associated mutation, mutation testing changes the carrier risk status of the tested person and may change the carrier risk status of relatives. OBJECTIVE This study aimed to describe the change in the distribution of carrier risk status resulting from testing in hereditary breast-ovarian cancer (HBOC) and hereditary non-...

Background: The TTN gene is related to a broad phenotype spectrum including tibial muscular dystrophy, hereditary myopathy with respiratory failure, limb girdle dystrophy 2J and dilated or hypertrophic cardiomyopathy. In 2014, Chauveau et al, described phenotypes cardiac septal defects, left ventricular non-compaction, Emery-Dreifuss arthrogryposis. 2020, Savarese showed most of patients bialle...

symptomatic mullerian duct cysts are uncommon. a young adult male presented to us with a palpable supra-pubic mass, pain and lower urinary tract symptoms. initial imaging modalities showed a large cystic lesion in the pelvis with a non-visualized right kidney. a short, blind ending right ureter on retrograde pyelography added to the confusion. on exploration, the lesion was noted to be separate...