Patients with Batten-Kufs' disease may be divided into three groups by electronmicroscopy of their storage deposits. In the first group, those characterized by curvilinear profiles, there is a strong correlation with a particular clinical syndrome, the late infantile form of the disease. In the second group, characterized by finger-print profiles, there is great diversity as to age and type of presentation. This is paralleled by diversity in the deposits. To the third group belongs the infantile form of the disease, as well as rare patients with later onset. Pathological diagnosis can be reliably, conveniently and consistently made from biopsy of skin by electronmicroscopy, and usually from biopsy of skeletal muscle as well.

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Background Proteomic studies of follicular fluid (FF) exist for several species, including the horse; however, the seasonal influence on FF proteome has not been explored in livestock. The application of high-throughput proteomics of FF in horse has the potential to identify seasonal variations of proteins involved in follicle and oocyte growth. Methods This study (i) profiles the proteomes of equine FF collected from dominant growing follicles during the spring anovulatory season (SAN), and spring (SOV), summer (SUM), and fall (FOV) ovulatory seasons; and (ii) identifies season-dependent regulatory networks and associated key proteins. Results Regardless of season, a total of 90 proteins were identified in FF, corresponding to 63, 72, 69, and 78 proteins detected in the SAN, SOV, SUM, and FOV seasons, respectively. Fifty-two proteins were common to all seasons, a total of 13 were unique to either season, and 25 were shared between two seasons or more. Protein-to-protein interaction (PPI) analysis indicated the likely critical roles of plasminogen in the SAN season, the prothrombin/plasminogen combination in SUM, and plasminogen/complement C3 in both SOV and FOV seasons. The apolipoprotein A1 appeared crucial in all seasons. The present findings show that FF proteome of SUM differs from other seasons, with FF having high fluidity (low viscosity). Conclusions The balance between the FF contents in prothrombin, plasminogen, and coagulation factor XII proteins favoring FF fluidity may be crucial at the peak of the ovulatory season (SUM) and may explain the reported lower incidence of hemorrhagic anovulatory follicles during the SUM season. Electronic supplementary material The online version of this article (10.1186/s12958-019-0473-z) contains supplementary material, which is available to authorized users.

Peripherin-2, the product of the rds gene, is a tetraspanin protein. In this study, we show that peripherin-2 forms a complex with melanoregulin (MREG), the product of the Mreg locus. Genetic studies suggest that MREG is involved in organelle biogenesis. In this study, we explore the role of this protein in processes associated with the formation of disk membranes, specialized organelles of photoreceptor rod cells. MREG antibodies were generated and found to be immunoreactive with a 28 kDa protein in retinal extracts, bovine OS, ARPE-19 cells, and rat RPE. MREG colocalized with peripherin-2 in WT (CB6F1/J) and in rds+/- retinas. Western blots of serial tangential sections confirmed the close association of these two proteins within the IS and basal outer segment of rods. Immunoprecipitation (IP) of OS extracts showed formation of a complex between MREG and peripherin-2-ROM-1 hetero-oligomers. This interaction was confirmed with pulldown analyses in which the GST-PerCter protein selectively pulled down His-MREG and His-MREG selectively pulled down PerCter. Biacore analysis using peptide inhibitors and per-2 truncation mutant studies allowed us to map the MREG binding site on per-2 to the last five residues of the C-terminus (Gln341-Gly346), and kinetic data predicted a KD of 80 nM for PerCter-MREG binding. Finally, the effect of MREG on photoreceptor specific membrane fusion was assayed using a disk-plasma membrane cell free assay. Preincubation of target membranes with MREG resulted in a dose-dependent inhibition of fusion with an IC50 in the submicromolar range. Collectively, these results suggest that this newly identified protein regulates peripherin-2 function.

The effects of age (young: 5-6 years; intermediate: 10-14 years; old: > or =18 years) on follicle and hormone dynamics during an interovulatory interval (IOI; n = 46) and on preovulatory oocytes and concentrations of follicular fluid factors (n = 44) were studied in mares. Old mares were not approaching senescence, as indicated by regular lengths of the IOI (19-27 days) during the period May-October. The IOI was 1 day longer (P < 0.05) in the old group than in the two younger groups and was associated with a slower (P < 0.05) growth rate of the ovulatory follicle. The old group had diminished follicle activity, as indicated by significantly smaller and fewer follicles. Concentrations of FSH did not differ among age groups, except that the maximum concentration was greater (P < 0.05) in the old group. Concentrations of LH were greater (age x day interaction; P < 0.03) in the young group throughout the ovulatory LH surge and may have played a role in a shorter (P < 0.05) interval from maximum diameter of the preovulatory follicle to ovulation. Maximum circulating concentrations of oestradiol during the preovulatory surge were greatest (P < 0.05) in the young group. No effects of age were detected on oocyte morphology. Concentrations of ovarian steroids in preovulatory follicular fluid were not affected by the age of the mares, but concentrations of free insulin-like growth factor-1 were greater (P < 0.05) in the old group. The results indicate the importance of considering the potential confounding effects of age in experimental protocols and for considering age in the development of theriogenology programmes.

Data were collected daily from 23 mares during two consecutive interovulatory intervals (IOIs). Several significant (p < 0.05) new observations on temporal relationships were made. The FSH increase that begins before ovulation temporarily plateaued on the day of discharge of follicular fluid into the peritoneal cavity in association with ovulation. During the declining portion of the pre-ovulatory oestradiol surge, an abrupt reduction in the rate of decrease occurred in synchrony with the peak of the LH surge and is consistent with a negative effect of LH on oestradiol. Repeatability within mares was based on the following positive and significant correlations between the two IOIs: (i) length of the interval between ovulations and between ovulation and the beginning of follicle deviation; (ii) diameter of the pre-ovulatory follicle on days -3 to -1; (iii) number of follicles in diameter classes of 2-5 mm (correlation for 22/23 days of the IOI), 5.1-10 mm (18/23 days), 10.1-15 mm (12/23 days) and 15.1-20 mm (12/23 days) and (iv) concentrations of FSH (18/23 days) and LH (22/23 days). The greatest repeatability for the follicle-diameter classes occurred in the 2-5 mm class, and thereafter the repeatability progressively decreased as the diameters for the classes increased. Results demonstrated measurable repeatability within mares for several end points between consecutive IOIs.

A 17-year-old patient had myoclonic epilepsy caused by Lafora's disease. Biopsy showed polysaccharide accumulations within membrane-bound spaces in skeletal muscle cells. Some of the accumulations were morphologically similar to Lafora bodies as they have been seen in the brain. The histochemical reactions of these membrane-bound spaces suggested that they were peroxisomes. Polysaccharide accumulations also were demonstrated in hepatic cells, where they probably were located in the endoplasmic reticulum. Lafora's disease can be diagnosed by histochemical and electron microscopic study of skeletal muscle.

Since the horse has a highly precocial reproductive strategy, most organs are functionally well developed at birth and thus, embryonic and fetal life is interesting. Data on the development of important organs are very limited. Here, we detailed macroscopically and histologically the equine digestive system, focusing on the first third of gestation. At 21 days, the oral cavity was an empty space, and the liver contained proliferating endodermal cells. At 25 days, a fusiform stomach and the pancreatic bud were present. At 28 days, a small tongue and the esophagus occurred. At 30 days, primary and secondary palates were developed, the liver contained cords of hepatocytes, and the pancreas was triangular. At 40 days, crypts had formed in the intestinal loops, cell differentiation was observed in the hepatic parenchyma, and the pancreas was elongated. Pancreatic acini and islets were observed in fetuses of 50 days and intestines were highly convoluted. Three segments of the pharynx were distinguishable at 75 days. At 105 days, the intestinal villi were wide with round tips; especially, the liver, stomach, and oral cavity showed key steps of anatomical and cellular differentiation in early fetuses, whereas other areas, such as pancreas or pharynx were still immature in the investigated phase. Pluripotency analysis using Oct4 showed initial intense staining in all of the digestive system tissues and a later decreased becoming restricted to specific cell layers. In conclusion, our data may contribute to perform a chronological reference of developmental events for approaches predicting pregnancy disorders in horses.