Multiple Disease Associations in Autoimmune Polyglandular Syndrome Type II

ObjectiveAutoimmune polyglandular syndrome type II (APS II) is characterized by adrenal insufficiency (Addison’s disease), autoimmune thyroid disease, and/or type 1 diabetes mellitus (DM1). Multiple other autoimmune diseases have been associated with APS II. Here we report a case of a patient with APS II who over the course of 10 years developed Addison’s disease, hypothyroidism, DM1, Hashimoto’s encephalopathy, vitiligo, celiac disease, seronegative arthritis, and ulcerative colitis. This is a particularly aggressive course of APS II, and this combination of autoimmune diseases has not been previously reported.MethodsA 25-year-old female with a history of ulcerative colitis (UC), celiac disease, and DM1 presented to our institution with mental status changes. She was diagnosed with Hashimoto’s encephalopathy and treated with high-dose steroids and intravenous immunoglobulin (IVIG). She recovered well from her encephalopathy but her posthospitalization course was complicated due to the development of Addison’s disease, vitiligo, seronegative arthritis, and hypothyroidism.ResultsThe current understanding of APS II and its autoimmune disease associations are briefly summarized.Submitted for publication April 10, 2014 Accepted for publication July 10, 2014 The association of UC and Hashimoto’s encephalopathy with APS II is novel and discussed in detail.ConclusionA case of a patient with APS II with a dramatic development of 8 autoimmune diseases over 10 years is described. The novel APS II developments of Hashimoto’s encephalopathy and UC are discussed. This case highlights the potential complexity and severity of the clinical course of APS II. (Endocr Pract. 2014;20:e250-e255)     

Effects of gravitational unloading on back muscles tone

The study involved 12 healthy volunteers who were exposed to 6-h or 3-day dry immersion (DI). The back muscle tone was recorded by resonance vibrography using parameters of transverse stiffness of the muscles under study. The measurements in 3-day DI were performed twice before DI, daily in the course of DI, and twice after its completion; in the short-term (6-h) DI, the testing was carried out twice before DI, 1 and 4 h after the beginning of DI, and during the first hour after DI completion. It has been shown that the absence of support is followed by a sharp decrease in the back extensor muscles tone, which has the maximal values during the first hours and days of DI. The possible role of back muscle atony in the development of well-known phenomena of the spine length increase and back pain appearance observed at the beginning of space flights and in the first days after landing, as well as under the conditions of simulated microgravity (DI and head-down bed rest), is discussed.     

A case of urinary tract infection due to Salmonella enterica serovar Virchow and review of the related literature

Nontyphoid salmonella (NTS) serotypes can cause gastroenteritis, bacteriemia, and focal infections. However, these focal infections, including urinary tract infections (UTI), are occasionally observed; in particular, the presence of several predisposing factors, such as immunodeficiency and structural abnormality in the urinary tract, increase the possibility of the occurrence of infection. We present a case of UTI caused by Salmonella enterica serovar Virchow in an elderly and debilitated patient with benign prostatic hyperplasia (BPH). Administration of appropriate antibiotic treatment resulted in recovery of the patient's clinical course.     

Long sensory tracts (cuneate fascicle) in cervical somatosensory evoked potential after median nerve stimulation

Low amplitude high frequency waves (LHW) were investigated in normal and patient cervical somatosensory evoked potentials after median nerve stimulation (CSEP) in parallel to normal and patient conducted somatosensory evoked potentials (SEP) after tibial nerve stimulation. Normal recordings were obtained in five subjects undergoing dorsal root entry zone (DREZ) coagulation for pain relief. Patient recordings were obtained in 11 subjects suffering from either syringomyelia, spinal cord tumour, or both. All recordings were made intraoperatively from the dorsal spinal cord surface using the subpial recording technique. Normal CSEP showed typical triphasic potential starting with an initial P9, followed by N13 and a final positivity, P1. Numerous LHW were superimposed on slow triphasic potential. To improve the visibility of LHW, slow triphasic potential was removed from the original CSEP. Potentials thus obtained contained only high frequency components of CSEP, i.e. LHW. They were compared with conducted SEP after tibial nerve stimulation. Comparison revealed similarities in high frequency, low amplitude and general wave form, LHW thus showing characteristics of conducted potential. Duration was found to be significantly shorter than normal duration in both patient LHW (Student's t-test, P<0.0005) and patient conducted SEP (Student's t-test, P=0.064). A shorter duration was associated with worsening of configuration in patient LHW and patient conducted SEP. These changes of LHW could not be connected with distortion of N13 seen in patient CSEP. A shorter duration and worsening of configuration in patient LHW were most prominent in cases with a loss of vibration and posture senses, but were also observed in cases where only pain and temperature senses were affected. We therefore concluded that cuneate fascicle is the most likely generator of LHW, although the participation of other cervical long sensory tracts, e.g. spinothalamic tract, cannot be ruled out.     

Ubiquinone at center N is responsible for triphasic reduction of cytochrome b in the cytochrome bc(1) complex.

We have examined the pre-steady state reduction kinetics of the Saccharomyces cerevisiae cytochrome bc(1) complex by menaquinol in the presence and absence of endogenous ubiquinone to elucidate the mechanism of triphasic cytochrome b reduction. With cytochrome bc(1) complex from wild type yeast, cytochrome b reduction was triphasic, consisting of a rapid partial reduction phase, an apparent partial reoxidation phase, and a slow rereduction phase. Absorbance spectra taken by rapid scanning spectroscopy at 1-ms intervals before, during, and after the apparent reoxidation phase showed that this was caused by a bona fide reoxidation of cytochrome b and not by any negative spectral contribution from cytochrome c(1). With cytochrome bc(1) complex from a yeast mutant that cannot synthesize ubiquinone, cytochrome b reduction by either menaquinol or ubiquinol was rapid and monophasic. Addition of ubiquinone restored triphasic cytochrome b reduction, and the duration of the reoxidation phase increased as the ubiquinone concentration increased. When reduction of the cytochrome bc(1) complex through center P was blocked, cytochrome b reduction through center N was biphasic and was slowed by the addition of exogenous ubiquinone. These results show that ubiquinone residing at center N in the oxidized cytochrome bc(1) complex is responsible for the triphasic reduction of cytochrome b.     

测定绿脓杆菌分裂指数反映生长势头的初步研究

本文以细胞生物学理论为基础,细菌细胞发育周期形态和群体细菌分裂相数量的变化为依据,研究了测定绿脓杆菌DI方法。建立了数学模型,分析了生长过程中DI动态。结果表明,DI可较准确地反映细菌生长势头。实验采用同龄细菌选择和同步培养技术,免疫荧光染色,显微镜下直接观察分裂相细菌,并计算其占总菌数的比例。在对数期前DI已上升,开始后迅速达高峰,接近稳定期时已下降到较低水平。与生长速度比较,两者动态基本一致,但DI高峰较早出现77分钟。认为DI与生长速度关系密切,是与细菌生命活动物质交换的三流学说相伴随的一种特殊信息流。     

Flow cytometric DNA content in myelodysplastic syndromes

DNA flow cytometric analysis of unfixed bone marrow cells stained with propidium iodide was carried out in 33 patients with untreated primary myelodysplastic syndromes. Patients with stable clinical course for up to 3 years had higher fractions of cells in S and G2 phases (22.7 +/- 12.4% and 12 +/- 3.6%) than those who developed acute leukemia and/or died early in the course of disease (14.4 +/- 8.5% and 6.6 +/- 4%). Median survival was more than 36 mo in patients with S + G2 cell fraction higher than 24%, and 14 mo in the remaining 16 patients with lower values (P less than 0.01). Analyses repeated after 3-24 mo showed no major changes in cell proliferation pattern in ten out of 11 patients. The remaining patient had sharp decrease in S and G2 cell fraction 3 mo before the transition into acute leukemia. The DNA index (DI) of bone marrow cells was calculated to assess ploidy. However, comparative evaluation of cytologic, cytogenetic, and flow cytometric data suggest that, under our experimental conditions, the DI may be influenced by factors such as the degree of chromatin compactness.     

Thickened pituitary stalk on magnetic resonance imaging in children with central diabetes insipidus

Magnetic resonance imaging (MRI) has revealed isolated pituitary stalk thickening (PST) in certain cases of idiopathic or secondary central diabetes insipidus (DI) due to infiltrative processes. Twenty-six children with DI and PST underwent cerebral MRI at the age of 8 +/- 4 years and were followed (n = 25) by clinical and MRI evaluation for 5.5 +/- 3.6 and 3.0 +/- 2 years, respectively, but given no treatment other than hormonal substitutive therapy. Patients were subdivided into groups according to the etiology of the DI: germinoma (n = 4), Langerhans' histiocytosis (n = 5) or 'idiopathic' DI with PST (n = 17). Complete anterior pituitary evaluation in 24 of the 26 patients revealed that 14 children were suffering from associated growth hormone deficiency and 7 had multiple hormone deficiencies. At the first MRI evaluation, pituitary stalk enlargement varied from 2.2 to 9.0 mm. The anterior pituitary gland was found to be normal (n = 12), small (n = 8) or enlarged (n = 6). At the final evaluation, a change in MRI features had occurred in 16 patients: morphological and/or signal changes in the PST (n = 16; 6 of whom showed an increase in PST) and changes in anterior pituitary gland size (n = 8; 3 of whom had increased and 5 had decreased). The presence of a growing suprasellar mass with a progressively enlarging pituitary stalk was demonstrated in the 6 patients who had shown increased pituitary stalk enlargement 1.8 +/- 1.6 years after the first MRI. In 4 of these patients, a diagnosis of germinoma was made 1.3 +/- 0.6 years after PST identification by MRI at the onset of DI, but the other 2 patients showing a suprasellar mass were still categorized as 'idiopathic' at the final clinical evaluation performed 7.8 and 12.3 years after DI onset. In 10 patients (all but 1 with Langerhans' histiocytosis, showing 'idiopathic' DI) the pituitary stalk enlargement was diminished after 2.0 +/- 1.9 years of MRI follow-up, and there was a complete reversal of pituitary stalk enlargement in 5 patients. We conclude that the natural history of 'idiopathic' isolated central DI with PST is unpredictable. Although germinoma should always be considered during the first 3 years of follow-up in patients presenting isolated DI with PST by repeated investigations every 3-6 months, it remains an infrequent etiology, affecting only 15% of cases in our study.     

Endocrine disorders in pediatric - onset Langerhans Cell Histiocytosis.

Langerhans Cell Histiocytosis (LCH) is a rare disorder with a great variety of clinical manifestations. The purpose of this retrospective study was to evaluate the pattern and the long-term course of clinical, laboratorial and radiological findings in pediatric-onset LCH. We reviewed 46 children with histological diagnosis of LCH. Ten children (22%) showed endocrine disorders. Central diabetes insipidus (DI) was observed in all ten patients; GH deficiency was confirmed in four and hypogonadism in two children. There were no adrenal, prolactin or thyroid axis abnormalities. Obesity was observed in three patients. Eight patients showed soft tissue infiltration and five bone involvement. The MRI showed a lack of posterior pituitary bright spot in all DI patients; infundibular infiltration (II) associated or not with sellar or supra-sellar mass was observed in 4 patients. We conclude that the investigation of LCH, a multi-systemic disease, should include central nervous system images. The presence of II and/or DI should raise the diagnosis of LCH. Complete endocrine evaluation, allowing an early hormone therapy, is required to obtain a better quality of life in children with LCH.     

自体骨髓干细胞移植治疗失代偿期肝硬化的临床效果分析

目的:观察自体骨髓间充质干细胞(BMSC)移植治疗合并不同并发症的失代偿期肝硬化的临床效果。方法:回顾性分析我院自2008年12月至2013年12月收治的148例经自体BMSC移植治疗的肝硬化合并肝性脑病、肝肾综合征、肝源性糖尿病以及消化道出血患者治疗前后的肝、肾功能、血清蛋白、血常规等指标的变化情况。结果:治疗后,肝硬化合并肝性脑病患者的ALT、血氨水平改善明显,TBIL反复;合并肝肾综合征的患者HB、Crea水平改善明显,ALT、AST、DBIL反复;合并肝源性糖尿病患者的ALT、TBIL、DBIL、TB、ALB、血糖水平改善明显;合并消化道出血患者的ALT、TP、ALB改善明显,AST、TBIL、PLT反复。结论:自体BMSC移植治疗肝硬化合并肝源性糖尿病的效果较好,对合并肝性脑病、肝肾综合征以及消化道出血患者的效果欠佳。     

Clinical Characteristics and Pituitary Dysfunction in Patients with Metastatic Cancer to the sella

ObjectiveMetastatic disease to the sella is uncommon and there are limited available data regarding the clinical aspects of this disease. We therefore sought to characterize the clinical demographics of sellar metastases.MethodsRetrospective chart review of adults treated at Stanford University Medical Center from 1980 to 2011 with metastatic disease to the sella.ResultsA total of 13 subjects were identified (9 females). The mean age at diagnosis was 55 years (range, 25 to 73 years). A total of 6 patients (46%) had breast car-cinoma, 3 (23%) had renal cell carcinoma, 2 (15%) had squamous cell carcinoma of the head and neck, 1 had bronchoalveolar carcinoma of the lung, and 1 had nodular sclerosing Hodgkin’s lymphoma. The most common presenting signs and symptoms were headache (58%), followed by fatigue (50%), polyuria (50%), visual field defects (42%), and ophthalmoplegia (42%). Seventy-five percent of patients presented with at least one pituitary hormone insufficiency, which included 6 patients (50%) with diabetes insipidus (DI). Eight (67%) subjects had secondary hypothyroidism and 5 (45%) had secondary adrenal insufficiency. Of the patients with stalk involvement, 86% had DI. All patients had a prior diagnosis of malignancy, with a mean duration of 95 months.ConclusionThe most common neoplastic sources to the sella were breast and renal cell carcinomas. Secondary hypothyroidism was the most common endocrine abnormality, followed by DI and adrenal insufficiency. Newonset central hypothyroidism and DI along with known malignancy in a patient with a sellar lesion should raise the suspicion of a metastatic source. (Endocr Pract. 2013; 19:914-919)     

Status of Acute Symptomatic Seizures in a Female Patient with Thyrotoxicosis: Hashimoto’s Encephalopathy. A Case Report

Hashimoto’s encephalopathy is an autoimmune disease associated with a significant increase in the titer of autoantibodies to thyroid peroxidase and thyroglobulin and is characterized by inflammatory and degenerative brain disorders. We report a clinical case of the recurrent status of acute symptomatic seizures in a female patient with Hashimoto’s encephalopathy.     

不同病因肝硬化患者临床特征及其预后影响因素分析

摘要 目的：探讨不同病因肝硬化患者临床特征及其预后影响因素。方法：回顾性选择2017年1月至2020年12月来我院诊治的具有完整资料，同时明确诊断为肝硬化，病因为乙肝后肝硬化（78例）、酒精性肝硬化（42例）。分析两组患者的一般资料、并发症发生情况、合并疾病情况，分析乙肝后肝硬化、酒精性肝硬化患者的预后影响因素。结果：两组患者在性别、职业、临床表现（黄疸、黑便、呕血、蜘蛛痣、脾脏增大）、肝脏体积缩小、并发症（上消化道出血、肝性脑病）、合并疾病（脂肪肝、糖尿病、胰腺炎、胆结石）方面有统计学意义（P<0.05）。乙肝后肝硬化组的疾病进展发生率明显较酒精性肝硬化组高（P<0.05）。单因素分析结果表明，临床表现（乏力、食欲减退、皮肤瘙痒、腹痛、腹胀、呕血、黑便、腹水）、Child-Pugh分级、并发症（上消化道出血、肝性脑病）是影响乙肝后肝硬化患者预后的因素（P<0.05）；Logistic回归分析结果表明，Child-Pugh分级在B、C级、存在上消化道出血与肝性脑病是影响乙肝后肝硬化患者预后的危险因素（P<0.05）。单因素分析结果表明，临床表现（黄疸）、Child-Pugh分级、并发症（上消化道出血、肝性脑病、感染）是影响酒精性肝硬化患者预后的因素（P<0.05）；Logistic回归分析结果表明，Child-Pugh分级为C级、存在上消化道出血肝性脑病、感染是影响酒精性肝硬化患者预后的危险因素（P<0.05）。结论：乙肝后肝硬化与酒精性肝硬化的差异主要体现在性别、职业、临床表现、并发症与合并疾病中，影响乙肝后肝硬化预后的危险因素为Child-Pugh分级在B、C级、存在上消化道出血与肝性脑病，影响酒精性肝硬化预后的危险因素为Child-Pugh分级为C级、存在上消化道出血、肝性脑病、感染，需防治并发症，以改善患者预后。     

A temporal analysis of testosterone-induced changes in electric organs and electric organ discharges of mormyrid fishes

The electric organ discharge (EOD) of several species of mormyrid fishes within the genus Brienomyrus is sexually dimorphic during the breeding season: the duration of the male's EOD is much longer than the duration of the female's (for a review see Hopkins, 1986). The mormyrid used here, Brienomyrus sp., exhibits similar alterations in the duration of the triphasic EOD after treatment with testosterone, as do other members of this genus (for reviews see Bass, 1986a,b). In this experiment, animals were intraperitoneally implanted with pellets of either 11-ketotestosterone or 17 a-methyltestosterone, and the time course of the changes in the duration of each of the three phases of the EOD were quantified. Additionally, the time course of changes in the morphology of the electric organ, after testosterone treatment, was also quantified using electron microscopic techniques. The results suggest that the change in the duration of the first phase of the EOD is due exclusively to the change in the thickness of the electrocyte body: this is consistent with a model proposed by Bennett and Grundfest (1961) for the electrogenesis of a triphasic EOD. Changes in the duration of the second and third phases of the EOD are highly correlated with the changes in the surface area of the posterior and anterior faces of the electrocyte, respectively. The results support the hypothesis that gonadal steroid hormone-induced changes in the EOD are due to structural changes in the electrocyte's membranes, and that all of the observed changes in the discharge of this system can be explained by the action of steroid hormones on the peripheral target cells (electrocytes).     

Detection of preclinically latent hyperperfusion due to stroke-like episodes by arterial spin-labeling perfusion MRI in MELAS patients

In stroke-like episodes (SEs) of patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), the detection of preclinically latent lesions is a challenge. We report regional cerebral hyperperfusion observed on arterial spin labeling (ASL) perfusion magnetic resonance imaging (MRI) in the preclinical phase more than 3 months before the clinical onset of SEs in 3 MELAS patients. These hyperperfused areas were not detected by conventional MRI in the preclinical phase and developed into acute lesions at the clinical onset of SEs, suggesting that ASL imaging has the potential for predicting the emergence of SEs.     

Validation of the MESSi among adult workers and young students: General health and personality correlates

The aim of this study was to provide validity for the Spanish version of the Morningness–Eveningness-Stability Scale – improved (MESSi), a novel evolved assessment of circadian typology which considers the subjective phase and amplitude by morning affect (MA), eveningness (EV) and distinctness (DI; subjective amplitude) sub-scales. Convergence validity of the MESSi with the reduced Morningness–Eveningness Questionnaire (rMEQ) and relationships with the General Health Questionnaire (GHQ-12) and sensitivity to reward and punishment (SR and SP) were analyzed. Two different Spanish samples, young undergraduate students (n = 891, 18–30 years) and adult workers (n = 577, 31–65 years) participated in this study. Exploratory structural equation modeling (ESEM) of MESSi displayed acceptable fit of a three-factors measurement model. Percentiles of the MA, EV and DI sub-scales were obtained for students and adults. The MESSi showed good convergence validity with the rMEQ scores, with a higher correlation coefficient between MA, EV and lower with DI sub-scales. In both, young students and adult workers, MA was negatively related with the GHQ-12 and SP, but the percentage of explained variance (6% and 3%) was lower than the positive correlations between DI, the GHQ-12 and SP (20% and 13%). Morning types presented higher MA and lower EV scores than the other two typologies in both students and adult workers, whereas only differences in DI were found among students (lowest in evening type). Candidates to psychological symptoms and mental disorders (“true cases”), with the clinical cut-off criteria of the GHQ-12, showed lower MA and higher DI in students, whereas only DI was higher for “true cases” among adults. These results supported that subjective amplitude is a factor related to, but also differentiated of, morningness–eveningness (preferred time for a certain activity). The measure of amplitude might be more important than circadian phase in health consequences.     

Encephalopathy in a patient with loiasis treated with albendazole: A case report

BackgroundLoiasis is a vector-borne parasitic infection endemic across many areas of Central and West Africa. Its treatment is tricky due to the risk of serious neurologic adverse events occurring after the administration of microfilaricidal drugs, like diethylcarbamazine or ivermectin, in subjects with high pre-treatment microfilarial load. Albendazole is currently recommended to slowly reduce microfilaremia before curative regimen is prescribed.Case presentationWe report the case of a 25-year-old man from Guinea-Conakry who was incidentally diagnosed with highly microfilaremic Loa loa infection. A three weeks regimen of albendazole was prescribed. Minor neurologic side effects occurred after two weeks of administration, while serious encephalopathy developed one week later. Clinical and electroencephalographic features of the patient resembled those of an immune-mediated encephalitis. After exclusion of other causes of encephalopathy, treatment-related Loa loa encephalopathy induced by albendazole was suspected. Corticosteroid treatment was administered and the patient recovered.DiscussionOur case confirms that Loa loa treatment-related encephalopathy may occur even during albendazole treatment. The clinical and electroencephalographic similarities between Loa loa albendazole-related encephalopathy and immune-mediated encephalitis suggest the possibility of an underlying inflammation-based pathogenesis. Although corticosteroid administration is not recommended in Loa loa ivermectin-induced encephalopathy, in this case of Loa loa albendazole-induced encephalopathy it may have played a therapeutic role.     

A patient with hydranencephaly and PEHO-like dysmorphic features

Progressive encephalopathy with Edema, Hypsarrhythmia, and Optic atrophy (PEHO syndrome) is a rare recessive autosomal neurodegenerative condition essentially described in Finland. The term PEHO-like syndrome has been proposed for patients who share clinical features of PEHO syndrome but lack the cerebellar atrophy, one of its major diagnostic criteria. We describe a patient presenting with hypoxic-ischaemic encephalopathy and PEHO-like syndrome features.     

Visual evoked potentials in the vicinity of the optic tract during stereotactic pallidotomy

We recorded visual evoked responses in eight patients with Parkinson's disease, using a depth electrode either at or below the stereotactic target in the ventral part of the globus pallidus internus (GPi), which is located immediately dorsal to the optic tract. Simultaneously, scalp visual evoked potentials (VEPs) were also recorded from a mid-occipital electrode with a mid-frontal reference electrode. A black-and-white checkerboard pattern was phase reversed at 1 Hz; check size was 50 min of arc. Pallidal VEPs to full field stimulation showed an initial positive deflection, with a latency of about 50 ms (P50), followed by a negativity with a mean latency of 80 ms (N80). The mean onset latency of P50 was about 30 ms. P50 and N80 were limited to the ventralmost of the GPi and the ansa lenticularis. Left half field stimulation evoked responses in the right ansa lenticularis region while right half field stimulation did not, and vice versa. These potentials thus seemed to originate posterior to the optic chiasm. The scalp VEPs showed typical triphasic wave forms consisting of N75, P100 and N145. The location of the recording electrode in the ansa lenticularis region did not modify the scalp VEP. These results suggest that P50 and N80 are near-field potentials reflecting the compound action potentials from the optic tract. Therefore, N75 of the scalp VEPs may represent an initial response of the striate cortex but not of the lateral geniculate nucleus.