Caucasian Familial Moyamoya Syndrome With Rare Multisystemic Malformations

Moyamoya disease is an idiopathic progressive steno-occlusive disorder of the intracranial arteries located at the base of the brain. It is associated with the development of compensatory extensive network of fine collaterals. Moyamoya disease is considered syndromic when certain genetic or acquired disorders such as polycystic kidney disease, neurofibromatosis, or meningitis are also present. Although the genetic contribution in moyamoya is indisputable, its cause and pathogenesis remain under discussion. Herein, we report a rare occurrence of moyamoya syndrome in two European Caucasian siblings in association with unusual multisystemic malformations (polycystic kidney disease in one, and intestinal duplication cyst in the other). The karyotype was normal. No mutation in the RFN213 gene was found, and none of the HLA types linked to moyamoya disease or described in similar familial cases were identified. By describing these multisystemic associations, polycystic kidney disease for the second time, and intestinal malformation for the first time in the literature, our report expands the phenotypic variability of moyamoya syndrome. The coexistence of disparate malformations among close relatives suggests an underlying common genetic background predisposing to structural or physiological abnormalities in different tissues and organs

Endosalpingiosis of choledochal duct

Surgery. 2007 Nov;142(5):778. Endosalpingiosis of choledochal duct. Mesquita I, Encinas A, Gradil C, Davide J, Daniel J, Graça L, Teixeira M. PMID:17981201[PubMed - indexed for MEDLINE

Data for: Self-Assembling Intrauterine Device (Upod) Modulation of the Reproductive Cycle in Mares

Table: 6. IUD Study: Histopathological evaluation of uterine biops

Data for: Self-Assembling Intrauterine Device (Upod) Modulation of the Reproductive Cycle in Mares

Table: 6. IUD Study: Histopathological evaluation of uterine biopsyTHIS DATASET IS ARCHIVED AT DANS/EASY, BUT NOT ACCESSIBLE HERE. TO VIEW A LIST OF FILES AND ACCESS THE FILES IN THIS DATASET CLICK ON THE DOI-LINK ABOV

Caucasian Familial Moyamoya Syndrome With Rare Multisystemic Malformations

Moyamoya disease is an idiopathic progressive steno-occlusive disorder of the intracranial arteries located at the base of the brain. It is associated with the development of compensatory extensive network of fine collaterals. Moyamoya disease is considered syndromic when certain genetic or acquired disorders such as polycystic kidney disease, neurofibromatosis, or meningitis are also present. Although the genetic contribution in moyamoya is indisputable, its cause and pathogenesis remain under discussion. Herein, we report a rare occurrence of moyamoya syndrome in two European Caucasian siblings in association with unusual multisystemic malformations (polycystic kidney disease in one, and intestinal duplication cyst in the other). The karyotype was normal. No mutation in the RFN213 gene was found, and none of the HLA types linked to moyamoya disease or described in similar familial cases were identified. By describing these multisystemic associations, polycystic kidney disease for the second time, and intestinal malformation for the first time in the literature, our report expands the phenotypic variability of moyamoya syndrome. The coexistence of disparate malformations among close relatives suggests an underlying common genetic background predisposing to structural or physiological abnormalities in different tissues and organs

Bilateral occurrence of granulosa-theca cell tumors in an Arabian mare

An Arabian mare was referred for right granulosa-theca cell tumor (GTCT) evaluation. The mare was presented 4.5 years later for a left GTCT, after successfully conceiving and delivering a normal foal in the interim. The concurrent or nonconcurrent occurrence of bilateral GTCT in mares appears to be rare

PLCζ: a marker of fertility for stallions?

Fertilization of eggs from all species studied to date is characterized by an increase in the internal concentration of calcium ions ([Ca2+]i) which is responsible for egg activation and initiation of development. In mammalian eggs, a distinctive characteristic is the presence of [Ca2+]i oscillations that exhibit species-specific frequency and persistence. We and others have provided experimental evidence that an unidentified spermatozoal [Ca2+]i oscillation-inducing factor (SF) may be responsible for triggering these increases. These findings support the theory that, after gamete fusion, the spermatozoon introduces into the egg a SF(s) responsible for the initiation of oscillations and embryo development. The active component of SF has not been fully characterized, but the recent discovery of a sperm-specific phospholipase (Zeta), suggest that this molecule may represent the active factor from the spermatozoon. Accordingly, we have investigated whether or not (Zeta) is present in stallion spermatozoa and whether the amount of (Zeta) is reduced in spermatozoa of subfertile animals