A case report: surgical reconstruction of the external genitalia in adrenogenital syndrome

This is a case report of a 5-year-old girl with congenital adrenal hyperplasia (CAH) who had clitoral hypertrophy and vagina opening at verumontanum between the bladder neck and external urethral sphincter. Female pseudohermaphroditism with CAH is the most common type of intersex problem seen in children. In females with this disorder, the internal genital organs are usually normal, but variable degrees of virilization can be observed externally. We discussed the indication of the surgical correction of ambiguous external genitalia in this syndrome in view of sexual function and cosmetic problems.     

Pyoderma gangrenosum associated with nasal septal perforation, oropharyngeal ulcers and IgA paraproteinemia

We report a case of pyoderma gangrenosum (PG) associated with nasal septal perforation, pharyngeal ulcers and IgA paraproteinemia. A 28-year-old woman first developed painful undermined ulcers on her perianal, inguinal and axillary areas when she was 22 years old. Histological findings from the cutaneous ulcers showed dermal and epidermal infiltrate of neutrophils, which was compatible with PG. Laboratory examinations did not detect any associations of systemic diseases other than polyclonal IgA paraproteinemia. Nasal fiberscopy revealed septal perforation and multiple ulcers on her pharynx. The biopsy specimen from the pharyngeal ulcers showed a polymorphous cellular infiltrate without necrotizing vasculitis or granuloma. However, there were no atypical lymphocytes that are typically seen in nasal NK/T lymphoma. By immunohistochemical analysis, the infiltrated lymphocytes were proved to be T cells and Epstein-Barr virus encoded RNA (EBER) was not detected. No pulmonary or renal lesions resembling Wegener's granulomatosis were found. Taken together, the nasal septal perforation was considered as nasal involvement of PG.     

A comparison of N-glycan profiles in human plasma and vitreous fluid

Purpose

To investigate the concentration and composition of N-glycans in plasma and vitreous samples obtained from patients with non-proliferative vitreoretinal diseases.

Methods

Plasma and vitreous samples were collected from 11 patients with idiopathic macular hole (MH) and 9 patients with epiretinal membrane (ERM). The samples were pretreated for enzymatic cleaving, and subsequently glycans released from proteins were captured on BlotGlyco H beads. Sialic acids were methyl-esterified. Processed glycans were tagged with aminooxy-functionalized peptide reagent (aoWR) and released from the beads, followed by detection by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS). The concentration and composition of N-glycans in the samples were assessed.

Results

Concentration of N-glycans in vitreous samples (132?±?29 pmol/100 μg protein) was significantly lower compared with those in plasma samples (714?±?29 pmol/100 μg protein, p?<?0.001). Predominant N-glycan in both plasma (39.7?±?1.1 %) and vitreous fluid (37.2?±?3.1 %) was identical, and the composition was presumed as [(Hex)2(HexNAc)2(NeuAc)2+ (Man)3(GlcNAc)2]. By contrast, the second-ranked N-glycan in vitreous samples (15.6?±?1.5 %) was the seventh in plasma (2.3?±?0.2 %).

Conclusions

The current data provide useful information on N-glycan profile in the vitreous fluid, which is distinct from that in the plasma.     

Pantothenic acid refeeding diminishes the liver,perinephrical fats,and plasma fats accumulated by pantothenic acid deficiency and/or ethanol consumption

ObjectivePantothenic acid (PaA) is a vitamin that is an integral part of coenzyme A (CoA). CoA is an essential coenzyme in fat metabolism. The aim of this study was to determine whether PaA deficiency causes the accumulation of tissue fats and, if so, can refeeding of PaA decrease such accumulated fat.MethodsWeaning rats were fed the PaA-free diet for 30 d. Rats were then divided into two groups. One group was continuously fed the PaA-free diet, and the other was fed the PaA-containing diet for an additional 13 d. At the end of the experiment, liver fat and perinephric fat were weighed, and plasma triglyceride levels measured. An additional similar experiment was conducted in which rats consumed 15% ethanol instead of water.ResultsFat that accumulated by consuming the PaA-free diet for 30 d was decreased by consuming the PaA-containing diet for an additional 13 d. Ethanol feeding elicited much greater accumulation of liver, perinephric, and plasma fats if rats were fed the PaA-free diet. In such cases, administration of PaA could decrease the accumulated fat.ConclusionPaA deficiency causes fat accumulation, and readministration of PaA decreases the tissue fat in rats fed the pantothenic acid–free diet. Ethanol accelerated the accumulation of fat in rats fed the PaA-free diet. PaA could be beneficial for decreasing accumulated tissue fat.     

Acute and chronic hemodynamic effects of the basic therapeutic regimen for congestive heart failure. Diuretics, low salt diet and bed rest

The acute and chronic hemodynamic effects of the "basic regimen" for congestive heart failure (CHF), consisting of diuretics (furosemide) low salt diet and bed rest, was studied in 10 patients with CHF (all in NYHA class IV initially). In the acute stage, furosemide 80 mg i.v. effected rapid clinical improvement with reduction in ventricular filling pressures (VFP); however, no increase in cardiac-(CI) or stroke volume index (SVI) was observed. Subsequently, furosemide 80 mg/day, p.o. was administered for a mean of 30 days with the patients hospitalized on a low salt diet. During this period, their clinical condition was stable. The second hemodynamic study revealed that SVI increased (p less than 0.05) with reduction in VFP maintained. Next, low molecular weight dextran was infused to construct the Frank-Starling ventricular function curve (VFC) and this was compared with the VFC at the acute stage (during diuresis). As a whole, CI and SVI at the chronic stage were significantly increased (p less than 0.05) at equal pulmonary wedge pressures (PWP: mean 20 mmHg). Mean arterial pressure and systemic vascular resistance were decreased during the chronic stage. These findings suggest that the "basic CHF regimen" is effective on a chronic basis in improving left ventricular pump function through afterload and preload reduction, in addition to acute symptomatic relief due to a decrease in PWP.     

Factors predicting decline in renal function and kidney volume growth in autosomal dominant polycystic kidney disease: a prospective cohort study (Japanese Polycystic Kidney Disease registry: J-PKD)

Clinical and Experimental Nephrology - Factors affecting decline in renal function and cyst growth in patients with autosomal polycystic kidney disease (ADPKD) are not fully described, particularly...