Twisted ovarian cyst in a three year old child

A brief review of the literature of twisted ovarian cysts in children is presented.The condition is most frequently confused with acute appendicitis because of the greater incidence of right-sided twisted ovarian cysts.A case of twisted ovarian cyst in a 3 year old child with operation and recovery is presented.A symptom complex is suggested to aid in the preoperative diagnosis.A plea is made for more frequent rectal examinations in young children with abdominal pain.     

Impact of cytochrome p450 3A5 genetic polymorphism on tacrolimus doses and concentration-to-dose ratio in renal transplant recipients

BACKGROUND: Tacrolimus pharmacokinetic characteristics vary greatly among individuals. Tacrolimus is a substrate of cytochrome p450 (CYP), of subfamily CYP3A. CYP3A activity is the sum of the activities of the family of CYP3A genes, including CYP3A5. Subjects with the CYP3A5*1/*1 genotype express large amounts of CYP3A5. Heterozygotes (genotype CYP3A5*1/*3) also express the enzyme. We postulated that CYP3A5 polymorphism is associated with tacrolimus pharmacokinetic variations. METHODS: CYP3A5 genotype was evaluated in 80 renal transplant recipients and correlated with the daily tacrolimus dose and concentration-to-dose ratio. RESULTS: The frequency of the homozygous CYP3A5*1 genotype (CYP3A5*1/*1) was 5%, and 11% of subjects were heterozygous (CYP3A5*1/*3). The mean doses required to obtain the targeted concentration-to-dose ratio were significantly lower in patients with the CYP3A5*1/*1 genotype. CONCLUSIONS: Determination of CYP3A5 genotype is predictive of the dose of tacrolimus in renal transplant recipients and may help to determine the initial daily dose needed by individual patients for adequate immunosuppression without excess nephrotoxicity.     

Cyclosporin A in adult patients with Henoch-Schönlein purpura nephritis and nephrotic syndrome; 5 case reports

Henoch-Sch?nlein purpura (HSP) is usually followed by mild renal involvement, but heavy proteinuria may also occur. Limited experience with cyclosporin A in children shows reduction of proteinuria. In this report, the use of cyclosporin A in 5 adult HSP patients with nephrotic-range proteinuria is described. Cyclosporin A in combination with prednisolone was given in 3 patients with HSP nephritis and nephrotic syndrome after a course of other immunosuppressive drugs and in 2 patients as initial treatment. All patients showed complete or partial remission of nephrotic syndrome with cyclosporin A and preserved stable renal function over a follow-up period of 5 years. We conclude that the combination of cyclosporin A with corticosteroids is effective in inducing remission of nephrotic syndrome in adult patients with HSP nephritis.     

Immunohistochemical expression of cyclin A in testicular biopsies of fertile and infertile men: correlation with the morphometry of seminiferous tubules

Cyclin A is a member of the cyclin family of proteins, which are required for both the mitotic and meiotic divisions that characterise spermatogenesis in human and other mammalian species. The data on cyclin A expression in various human spermatogenic disorders and its relationship to the morphology of seminiferous tubules are not well clarified. This study aimed to evaluate the immunohistochemical expression of cyclin A in testicular biopsies of different spermatogenic disorders correlating with the morphology of seminiferous tubules using morphometry tools. Immunohistochemical evaluation of cyclin A was carried out on testicular biopsies obtained from 48 infertile males (nonobstructive azoospermia) and 15 normal subjects together with using semiautomatic morphometric analysis for evaluation of seminiferous tubules. Cyclin A is expressed in 100% of normal and hypospermatogenesis groups and in 80% of maturation arrest group, with complete absence in Sertoli cell only group. In positive cases, cyclin A stained the nuclei of spermatogonia and primary spermatocytes with a higher intensity of expression in normal cases compared with infertile group. Cyclin A expression was significantly associated with the different examined morphometric parameters. Cyclin A is involved in both mitosis and meiosis of human spermatogenesis as it is expressed in spermatogonia and primary spermatocytes. Morphometry of human testis is intimately correlated with the testicular histopathology.     

Multiple jejunal diverticulosis and small bowel volvulus

A case of diverticulosis of the jejunum with volvulus of the small intestine is reported. A brief discussion of the common clinical features and the principles of treatment is given. A review of twelve cases of jejunal diverticulosis with small bowel volvulus is presented.     

腺苷A2A受体激活缺血后处理保护皮瓣作用研究

目的：缺血后处理需要反复夹闭血管蒂,可能对血管造成机械性损伤。药物缺血后处理成为缺血后处理的发展方向。腺苷A2A是调控皮瓣炎症的关键靶点,进行相关研究进一步探究腺苷A2A激活缺血后处理对皮瓣有否保护作用。方法：健康成年新西兰大白兔,分为3组。A组为假手术组;B组为缺血再灌注损伤组;C组,再灌注前5min注射腺苷A2A激活剂。分别进行皮瓣存活率检测和ELISA检测TNF以及IL-6。结果：腺苷A2A激活剂组皮瓣存活率高,炎症因子检测活性低于缺血再灌注损伤组。结论：腺苷A2A激活剂缺血后处理可以抑制炎症因子,具有保护皮瓣作用。运用腺苷A2A受体激活缺血后处理可能成为保护皮瓣的新措施。     

STRA6: role in cellular retinol uptake and efflux

Distribution of vitamin A throughout the body is important to maintain retinoid function in peripheral tissues and to ensure optimal vision. A critical step of this process is the transport of vitamin A across cell membranes. Increasing evidence indicates that this process is mediated by a multidomian membrane protein that is encoded by the stimulated by retinoic acid 6 (STRA6) gene. Biochemical studies revealed that STRA6 is a transmembrane pore which transports vitamin A bidirectionally between extra- and intracellular retinoid binding proteins. Vitamin A accumulation in cells is driven by coupling of transport with vitamin A esterification. Loss-of-function studies in zebrafish and mouse models have unraveled the critical importance of STRA6 for vitamin A homeostasis of peripheral tissues. Impairment in vitamin A transport and uptake homeostasis are associated with diseases including type 2 diabetes and a microphthalmic syndrome known as Matthew Wood Syndrome. This review will discuss the advanced state of knowledge about STRA6’s biochemistry, biology and association with disease.     

不同种类自酸蚀处理剂对牙釉质及牙本质微观结构的影响

目的：通过扫描电镜观察，比较研究自行研制的自酸蚀处理剂A1、A2、B1、B2与现有商品自酸蚀处理剂Contax、SE Bond处理牙釉质、牙本质的超微结构差异。方法：12颗人磨牙制得牙釉质、牙本质试件各24片，分别随机分为6组(n=4)。不同种类自酸蚀处理剂A1、A2、B1、B2、Contax、SE Bond分别进行处理后，扫描电镜观察。结果：B组对牙釉质、牙本质均有较强脱矿能力，与Contax组较为接近。A组对牙齿表面的脱矿能力相对较弱，与SE Bond组较为接近。结论：自行研制的自酸蚀处理剂A1、A2、B1、B2对牙釉质、牙本质有不同程度的酸蚀刻作用，基本达到了牙齿表面处理的目的。     

Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin

BACKGROUND: The COL4A3-COL4A4-COL4A5 network in the glomerular basement membrane is affected in the inherited renal disorder Alport's syndrome (AS). Approximately 85% of the AS patients are expected to carry a mutation in the X-chromosomal COL4A5 gene and 15% in the autosomal COL4A3 and COL4A4 genes. The COL4A5 chain is also present in the epidermal basement membrane (EBM). It is predicted that approximately 70% of the COL4A5 mutations prevent incorporation of this chain in basement membranes. METHODS: We investigated whether or not COL4A5 defects could be detected by immunohistochemical analysis of the EBM. Punch skin biopsies were obtained from 22 patients out of 17 families and two biopsy specimens from healthy males were used as controls. RESULTS: In four cases with the COL4A5 frameshift or missense mutations, the COL4A5 chain was either lacking from the EBM (male) or showed a focally negative pattern (female). In three other patients with a COL4A5 missense mutation, a COL4A3 and a COL4A4 mutation, respectively, the COL4A5 staining was normal. A (focally) negative EBM-COL4A5 staining was found in three patients of six families with a diagnosis of AS and in one family of a group of four families with possible AS. CONCLUSIONS: The (focal) absence of COL4A5 in the EBM of skin biopsy specimens can be used for fast identification of COL4A5 defects. Combined with polymorphic COL4A5 markers, both postnatal and prenatal DNA diagnosis are possible in the family of the patient.     

缺血后处理对保护皮瓣的作用机制研究

目的：缺血后处理已经在心、肾等器官上广泛应用,进行相关研究进一步探究缺血后处理对皮瓣有否保护作用。方法：健康成年新西兰大白兔,分为3组。A组为给予缺血后处理;B组为再灌注前5min给予A2A阻滞剂SCH58261＋缺血后处理。C组,直接应用微血管夹阻断腹壁浅血管持续缺血6h后,恢复正常血供。分别进行中性粒细胞浸润,MPO含量和皮瓣存活率检测。结果：新西兰大白兔完全存活。B、C组相比较,中性粒细胞计数以及MPO含量也未见统计学差别（P〉0.005）。实验组皮瓣存活面积比较,B与C相比较,无统计学意义（P〉0.005）,但是A与B、C相比较,上述指标两两之间都有统计学意义差别（P〈0.005）。结论：缺血后处理对皮瓣再灌注损伤有保护作用,该作用可能和A2A受体性质有关。     

Influence of sevoflurane on the metabolism and renal effects of compound A in rats

BACKGROUND: The sevoflurane degradation product compound A is nephrotoxic in rats. In contrast, patient exposure to compound A during sevoflurane anesthesia has no clinically significant renal effects. The mechanism for this difference is incompletely understood. One possibility is that the metabolism and toxicity of compound A in humans is prevented by sevoflurane. However, the effect of sevoflurane on compound A metabolism and nephrotoxicity is unknown. Thus, the purpose of this investigation was to determine the effect of sevoflurane on the metabolism and renal toxicity of compound A in rats. METHODS: Male rats received 0.25 mmol/kg intraperitoneal compound A, alone and during sevoflurane anesthesia (3%, 1.3 minimum alveolar concentration, for 3 h). Compound A metabolites in urine were quantified, and renal function was evaluated by serum creatinine and urea nitrogen, urine volume, osmolality, protein excretion, and renal tubular histology. RESULTS: Sevoflurane coadministration with compound A inhibited compound A defluorination while increasing relative metabolism through pathways of sulfoxidation and beta-lyase-catalyzed metabolism, which mediate toxicity. Sevoflurane coadministration with compound A increased some (serum creatinine and urea nitrogen, and necrosis) but not other (urine volume, osmolality, and protein excretion) indices of renal toxicity. CONCLUSIONS: Sevoflurane does not suppress compound A nephrotoxicity in rats in vivo. These results do not suggest that lack of nephrotoxicity in surgical patients exposed to compound A during sevoflurane anesthesia results from an inhibitory effect of sevoflurane on compound A metabolism and toxicity. Rather, these results are consistent with differences between rats and humans in compound A exposure and inherent susceptibility to compound A nephrotoxicity.     

Prostatic mycosis: Nonsurgical diagnosis and management

Mycotic prostatitis is usually found incidentally at autopsy or in surgically removed prostates. A seventy-nine-year-old man with mycotic prostatitis presented with prostatism. A nonoperative diagnosis was established by needle biopsy of the prostate. Symptoms of prostatism improved with medical management. A review of prostatic mycosis is presented.     

Effects of pregnancy on health: certain aspects of importance for women with cystic fibrosis.

More women with cystic fibrosis (CF) now reach reproductive age and wish to become pregnant. Although women with CF have reduced fertility, many of them can become mothers. A pregnancy ought to be carefully planned since several studies have shown that pregnancy is well tolerated if good medical care is provided, and the CF woman is in a stable good condition. A short review of the implications of pregnancy for women with CF is presented. A suggested schedule for pregnant women with CF is given.     

Hemorrhagic Bullae After Cryosurgery in a Patient With Hemophilia A

BACKGROUND: A case of hemorrhagic bullae and blisters on the hand of a patient with hemophilia A after cryosurgery for verruca vulgaris is reported. OBJECTIVE: To discuss a hemorrhagic complication in a patient with hemophilia A after cutaneous cryosurgery. METHODS: This is an observatory case report. RESULTS: Even minimal cryosurgery can induce hemorrhagic bullae in patients with hemophilia A. CONCLUSION: The risks and benefits of cryosurgery should be weighed carefully in patients with bleeding disorders such as hemophilia.     

Congenital posterior atlas defect associated with anterior rachischisis and early cervical degenerative disc disease: a case study and review of the literature

A rare case of a wide congenital atlas defect is reported. A 25 year-old woman was admitted after complaints of radicular pain in the right arm. Radiographs incidentally revealed aplasia of the posterior arch of the atlas together with anterior rachischisis. A review of the literature is presented and a possible association with early disc degeneration is discussed.     

Chromogranin A in uremia: progressive retention of immunoreactive fragments

Chromogranin A is a soluble protein that is stored and released with catecholamines from their secretory vesicles. Its measurement is a probe of exocytotic sympathoadrenal activity, and in plasma it may also be a useful tool in the diagnosis of peptide producing endocrine neoplasms. Because we have found that chromogranin A is elevated in secondary (uremic) hyperparathyroidism, we systematically investigated the influence of renal dysfunction and its attendant hyperparathyroidism on chromogranin A in several subject groups: normal controls (serum creatinine less than or equal to 1.2 mg/dl), nonazotemic renal transplant recipients, nonazotemic subjects with glomerular disease (serum creatinine between 1.2 and 2 mg/dl), mid-range renal disease subjects (serum creatinine between 2 and 7.5 mg/dl), and end-stage renal disease subjects (serum creatinine greater than 7.5 mg/dl). Plasma chromogranin A rose with deterioration of renal function, and the rise was independent of etiologic diagnosis, blood pressure, or indices of sympathoadrenal activity or hyperparathyroidism. Size fractionation of uremic plasma by gel filtration, and immunoextraction by region-specific anti-chromogranin A (anti-N-terminal, anti-C-terminal, and anti-mid-molecule) antibodies suggested that chromogranin A immunoreactivity circulates in uremia as lower molecular weight fragments of the parent chromogranin A molecule, with mid-molecule fragments the major constituent. This immunoreactivity is only minimally removed by peritoneal dialysis and is not at all hemodialyzable. The uremia-dose-dependent accumulation of chromogranin A immunoreactive fragments in renal failure suggests that the kidney is a major site of disposition or removal of the immunoreactivity. Furthermore, lack of detectable chromogranin A immunoreactivity in normal subjects' urine suggests that the immunoreactivity is destroyed as it is removed by the kidney. We conclude that plasma chromogranin A increases in proportion to degree of renal insufficiency and that renal function must therefore be controlled when using plasma chromogranin A in the investigation of amine or peptide hormone storage and release.     

Pharmacogenetic determinants of human liver microsomal alfentanil metabolism and the role of cytochrome P450 3A5

BACKGROUND: There is considerable unexplained interindividual variability in the clearance of alfentanil. Alfentanil undergoes extensive metabolism by cytochrome P4503A4 (CYP3A4). CYP3A5 is structurally similar to CYP3A4 and metabolizes most CYP3A4 substrates but is polymorphically expressed. Livers with the CYP3A5*1 allele contain higher amounts of the native CYP3A5 protein than livers homozygous for the mutant CYP3A5*3 allele. This investigation tested the hypothesis that alfentanil is a substrate for CYP3A5 and that CYP3A5 pharmacogenetic variability influences human liver alfentanil metabolism. METHODS: Alfentanil metabolism to noralfentanil and N-phenylpropionamide was determined in microsomes from two groups of human livers, characterized for CYP3A4 and CYP3A5 protein content: low CYP3A5 (2.0-5.2% of total CYP3A, n = 10) and high CYP3A5 (46-76% of total CYP3A, n = 10). Mean CYP3A4 content was the same in both groups. The effects of the CYP3A inhibitors troleandomycin and ketoconazole, the latter being more potent toward CYP3A4, on alfentanil metabolism were also determined. RESULTS: In the low versus high CYP3A5 livers, respectively, noralfentanil formation was 77 +/- 31 versus 255 +/- 170 pmol . min . mg, N-phenylpropionamide formation was 8.0 +/- 3.1 versus 20.5 +/- 14.0 pmol . min . mg, and the metabolite ratio was 9.5 +/- 0.4 versus 12.7 +/- 1.4 (P < 0.05 for all). There was a poor correlation between alfentanil metabolism and CYP3A4 content but an excellent correlation when CYP3A5 (i.e., total CYP3A content) was considered (r = 0.81, P < 0.0001). Troleandomycin inhibited alfentanil metabolism similarly in the low and high CYP3A5 livers; ketoconazole inhibition was less in the high CYP3A5 livers. CONCLUSION: In microsomes from human livers expressing the CYP3A5*1 allele and containing higher amounts of CYP3A5 protein, compared with those with the CYP3A5*3 allele and little CYP3A5, there was greater alfentanil metabolism, metabolite ratios more closely resembled those for expressed CYP3A5, and inhibitors with differing CYP3A4 and CYP3A5 selectivities had effects resembling those for expressed CYP3A5. Therefore, alfentanil is metabolized by human liver microsomal CYP3A5 in addition to CYP3A4, and pharmacogenetic variability in CYP3A5 expression significantly influences human liver alfentanil metabolism in vitro. Further investigation is warranted to assess whether the CYP3A5 polymorphism is a factor in the interindividual variability of alfentanil metabolism and clearance in vivo.     

Acute renal failure associated with nonfulminant hepatitis A virus infection

Hepatitis A is usually a mild self-limiting infection of the liver. Nonfulminant acute renal failure very rarely complicates type A viral hepatitis. An unusual case, a 32-year-old female with serologically proven acute hepatitis A infection, was complicated by acute renal failure and the patient in this study is the first case associated with Cushing's disease. She recovered, and the laboratory tests returned normal one month after initial hospitalization. Although the mechanism responsible for renal failure in acute hepatitis A virus infection is still uncertain, possible causes are discussed with the review of literature.     

RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds

Background

Multiple endocrine neoplasia 2A (MEN 2A) is a genetic syndrome manifesting as medullary thyroid carcinoma (MTC), hyperparathyroidism, and pheochromocytoma. Multiple endocrine neoplasia 2A results from mutations in the RET proto-oncogene. Hirschsprung disease (HSCR) is a rare manifestation of MEN 2A and has been described in known MEN 2A families.

Methods

Here we describe 2 MEN 2A families that were only identified after the diagnosis of HSCR.

Results

Kindred 1: A boy presented in infancy with HSCR. Genetic screening revealed a C609Y mutation, which is consistent with MEN 2A. Evaluation of his sister, father, and grandmother revealed the same mutation. All 3 had thyroidectomies demonstrating C-cell hyperplasia. The grandmother had a microscopic focus of MTC.Kindred 2: An infant boy and his sister were diagnosed with HSCR as neonates. Genetic testing demonstrated a C620R gene mutation consistent with MEN 2A. Total thyroidectomies revealed metastatic MTC in the father and C-cell hyperplasia in both children.

Conclusions

Hirschsprung disease can be the initial presentation of MEN 2A. We strongly recommend that genetic screening be performed in patients presenting with HSCR, looking for the known RET mutations associated with MEN 2A. If a mutation consistent with MEN 2A is detected, genetic screening of all first-degree relatives in the kindred is recommended.