Dysgerminoma in a 15 years old phenotypically female Swyer syndrome with 46, XY pure gonadal dysgenesis: A case report

Swyer syndrome is a 46, XY karyotype, with pure gonadal dysgenesis and primary amenorrhea. These females have primordial Mullerian structures and seek medical attention as they experience primary amenorrhea. Here, we report a 15‐year‐old girl, diagnosed as Swyer syndrome associated with left ovarian dysgerminoma.     

1例完全性腺发育不良患者的分子遗传学研究

目的对1例完全性腺发育不良患者进行分子遗传学研究并寻找致病原因。方法对患者的SRY(sex-determining re-gion Y)基因进行PCR和荧光原位杂交检测并进行DHH(desert hedgehog)基因测序,对患者进行全基因组的拷贝数变异检测。结果 DHH和SRY基因无突变。SRY基因所在位置正常。全基因组的拷贝数检测在12q13.12上有250 kb的拷贝数重复,覆盖TUBA1A,TUBA1B,LMBR1L,DHH,RHEBL1,MLL2,PRKAG1和DDN 8个基因。与父母双亲的基因组比对,该片段的拷贝数重复是新发生的。结论该患者DHH基因拷贝数重复可能是完全性腺发育不良的原因。     

Ovarian torsion in a premenarcheal girl: MRI findings

Adnexal torsion is an uncommon cause of severe lower abdominal pain in women and is often difficult to distinguish from other acute abdominal conditions. However, adnexal torsion should be considered in premenarcheal girls admitted with acute abdominal pain and evidence of an ovarian mass. Accurate and early radiological diagnosis is mandatory immediately after onset of clinical symptoms in order to preserve the viability of the ovary. Ultrasound (US) is usually the first line examination performed in an emergency setting, but computed tomography (CT) and magnetic resonance imaging (MRI) can be useful in case of ambiguous US findings, especially in patients with sub-acute symptoms and a suspected adnexal mass. This case report describes the additional value of MRI in a premenarcheal girl with sub-acute right fossa pain.     

磁共振弥散加权及张量技术在新生儿缺血缺氧性脑病中的应用

缺血缺氧性脑病（HIE）是新生儿危害最大的常见病之一,其病理生理机制及损伤特点复杂。根据脑成熟度、损伤严重程度及持续时间不同,MRI的影像表现各异。本文总结了磁共振弥散加权成像（DWI）及弥散张量成像（DTI）的原理和检查优势。回顾性分析了新生儿HIE的DWI和DTI的各参数变化及其规律。提示DWI能早期检出脑组织缺血缺氧改变的范围,并能一定程度反映细胞分子水平的改变;DTI能连续性反映脑组织轴索、髓鞘细微结构的改变,显示解剖构造与脑功能区域的关联。上述MRI技术的临床应用将为新生儿缺血缺氧性脑病的早期诊断、预后评估、疗效评价提供新的有益支持和保证,具有明显的临床应用优势。     

White matter microstructural alterations in migraine: a diffusion-weighted MRI study

Migraine is a common and disabling neurological disease. The pathomechanism that underlies the disorder is not entirely understood, and reliable biomarkers are missing. In the current analysis we looked for microstructural alterations of the brain white matter in migraine patients by means of diffusion-weighted magnetic resonance imaging. The measurements were carried out with a novel approach based on fine-tuned nonlinear registration and nonparametric permutation test in an alignment-invariant tract representation (Tract-Based Spatial Statistics). We found reduced fractional anisotropy in the right frontal white matter cluster of migraine patients. In the same region we also found increased mean diffusivity and increased radial diffusivity. The probabilistic tractography showed connection of this cluster to other parts of the pain network (orbitofrontal cortex, insula, thalamus, dorsal midbrain). We speculate that these findings reflect maladaptive plastic changes or white matter disintegration.     

Unilateral foveal hypoplasia in a child with bilateral anterior segment dysgenesis

In patients with foveal hypoplasia, anterior segment dysgenesis and an absence of systemic findings, consider a recently described syndrome of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis (FHONDA) in the differential diagnosis.     

Successful treatment of hemochromatosis with renal tubular dysgenesis in a preterm infant

We report the first surviving case of neonatal hemochromatosis with renal tubular dysgenesis. Renal failure was treated with peritoneal dialysis. Although hepatic failure from neonatal hemochromatosis was progressive, repeated exchange transfusions improved jaundice and coagulopathy. The patient gained weight and received a liver transplantation from her father.     

Familial hemiplegic migraine: follow-up findings of diffusion-weighted magnetic resonance imaging (MRI), perfusion-MRI and [99mTc] HMPAO-SPECT in a patient with prolonged hemiplegic aura

Familial hemiplegic migraine (FHM) is a rare inherited autosomal dominant disorder. Migraine aura may last up to several weeks and then resolve without sequel. We report a 21-year-old male with FHM since the age of 3 years. Diffusion-weighted magnetic resonance imaging (DWI), perfusion-MR imaging (P-MRI) and [99mTc] hexamethyl-propyleneamine-oxime-single photon emission tomography (HMPAO-SPECT) were performed on day 2, when he was somnolent with right-sided hemiplegia, on day 9 when a mild hemiparesis was still present and on day 24 after recovery. The right central region showed normal findings in DWI, whereas P-MRI and SPECT revealed hyperperfusion on day 2, less marked on day 9, and normal findings on day 24. In conclusion, this case report indicates for the first time, by means of SPECT, P-MRI and DWI studies, that even extremely long-lasting migraine aura is not associated with cerebral ischaemia. Therefore, it supports the revised International Headache Society criteria where the term 'persistent' aura is proposed.     

Diffuse recidivant alveolar hemorrhage in a patient with hepatitis C virus-related mixed cryoglobulinemia

A case of diffuse and recidivant alveolar hemorrhage is presented in a patient with hepatitis C virus-related type II mixed cryoglobulinemia with membranoproliferative glomerulonephritis. The patient was a 48-year-old white woman who suffered several outbreaks of pulmonary hemorrhage refractory to treatment with steroids, cyclophosphamide, azathioprine, plasmapheresis and interferon-α. The patient also presented persistent increased titers of immune complexes and rheumatoid factor with no histological hepatic alterations. Some considerations about evolution and treatment are given according to the updated physiopathology of this disease. Received: 15 July 1998 Final revision received: 16 November 1998 Accepted: 21 December 1998     

Gonadal dysgenesis in Turner syndrome with Y-chromosome mosaicism: Two case reports

BACKGROUNDTurner syndrome (TS) has a variety of different karyotypes, with a wide range of phenotypic features, but the specific karyotype may not always predict the phenotype. TS with Y chromosome mosaicism may have mixed gonadal dysgenesis, and the mosaicism is related to the potential for gonadoblastoma.CASE SUMMARYIn this case report, we report two cases of TS with different karyotypes and gonadal dysgenesis. Patient 1 had obvious virilization, and was positive for the SRY gene, but her karyotype in peripheral blood lymphocytes was 45X. Patient 2 had a mosaic karyotype, 45X/46X, dic (Y:Y) (p11.3:p11.2), and the proportion of Y-bearing cells was 50% in peripheral blood lymphocytes, but the patient had normal female external genitalia and streaky gonads, with no genital virilism. Different tissues in the same TS individual may exhibit different ratios of mosaicism. The gonadal determination and differentiation of mosaic TS are primarily dependent on the predominant cell line in the gonads. CONCLUSIONIn TS patients with virilization, it is necessary to test at least two to three tissues to search for cryptic Y material.     

Twenty years later: a reevaluation of the contribution of plasma thyroglobulin to the diagnosis of thyroid dysgenesis in infants with congenital hypothyroidism

BACKGROUND: The definition of the type of thyroid dysgenesis in congenital hypothyroidism (CH), ectopy, or athyreosis is important for monitoring patients and for genetic investigations. We have recently encountered infants who in spite of undetectable Technetium uptake on scintigraphy had biochemical results making athyreosis unlikely. OBJECTIVE: To reevaluate the utility of plasma thyroglobulin (Tg) in this clinical context using new sensitive Tg assays. SUBJECTS AND METHODS: Plasma Tg was retrospectively determined by two immunoassay systems on specimens obtained at diagnosis in 31 hypothyroid infants with thyroid dysgenesis. RESULTS: Scintigraphy led to the diagnosis of ectopy in 19 infants and of athyreosis in 12. Seven (58%) of the infants classified as athyreotic by scintigraphy had detectable plasma Tg (>0.2 microg/l), indicating that they had functional thyroid tissue. CONCLUSIONS: An undetectable plasma Tg should be documented to validate a scintigraphic diagnosis of athyreosis. Conversely, when plasma Tg is undetectable, scintigraphy could be avoided.     

Single‐cell detection by gradient echo 9.4 T MRI: a parametric study

Recent studies have shown that cell migration can be monitored in vivo by magnetic resonance imaging after intracellular contrast agent incorporation. This is due to the dephasing effect on proton magnetization of the local magnetic field created by a labelled cell. Anionic iron oxide nanoparticles (AMNP) are among the most efficient and non‐toxic contrast agents to be spontaneously taken up by a wide variety of cells. Here we measured the iron load and magnetization of HeLa tumour cells labelled with AMNP, as a function of the external magnetic field. High‐resolution gradient echo 9.4 T MRI detected individual labelled cells, whereas spin echo sequences were poorly sensitive. We then conducted a systematic study in order to determine the gradient echo sequence parameters (echo time, cell magnetization and resolution) most suitable for in vivo identification of single cells. Copyright © 2006 John Wiley & Sons, Ltd.     

磁共振扩散加权成像对前列腺癌患者盆腔淋巴结诊断价值的初步研究

目的初步评价扩散加权成像(DWI)对前列腺癌及良性前列腺增生患者淋巴结的鉴别诊断价值.方法回顾性分析15例前列腺癌患者(58个淋巴结)及15例良性前列腺增生患者(30个淋巴结)的DWI表现(b=300 s/mm2),分别测量这些淋巴结的表观扩散系数(ADC),将癌与增生患者的淋巴结ADC值进行比较.结果良性前列腺增生患者淋巴结的平均ADC值[(2.282±0.573)×10-3 mm2/s]明显大于前列腺癌患者[(1.607±0.256)×10-3 mm2/s](P=0.000).前列腺癌患者短径＜1.0 cm的淋巴结[(1.602±0.267)×10-3 mm2/s]与≥1.0 cm淋巴结的ADC值[(1.610±0.254)×10-3mm2/s]无显著性统计学差异(P=0.459).前列腺患者短径＜1.0 cm的淋巴结ADC值[(1.602±0.267)×10-3 mm2/s]小于前列腺增生患者淋巴结的ADC值[(2.282±0.573)×10-3 mm2/s](P=0.003).前列腺癌患者短径/长径＜0.7的淋巴结ADC值[(1.631±0.205)×10-3 mm2/s)比短径/长径≥0.7的[(1.594±0.283)×10-3 mm2/s]要高(P=0.039).结论DWI有可能用于前列腺癌淋巴结转移的检出.     

Dynamic ultrasound with postural change facilitated the detection of an incisional hernia in a case with negative MRI findings

Incisional hernias commonly develop after abdominal surgeries with a lower incidence in patients receiving laparoscopy. Diagnosis through a non-surgical approach is usually made by computed tomography or magnetic resonance images (MRI) but both image modalities require patients to be examined in a supine position. We reported a case noticing a mass over her right lower abdomen after a laparoscopic liver segmentectomy with negative findings of hernia on MRI. A hernia sac was found by ultrasound with the patient being standing, highlighting the utility of dynamic ultrasound with postural change in investigation of incisional hernias.     

Diffusion MRI abnormalities detection with orientation distribution functions: A multiple sclerosis longitudinal study

We propose a new algorithm for the voxelwise analysis of orientation distribution functions between one image and a group of reference images. It relies on a generic framework for the comparison of diffusion probabilities on the sphere, sampled from the underlying models. We demonstrate that this method, combined to dimensionality reduction through a principal component analysis, allows for more robust detection of lesions on simulated data when compared to classical tensor-based analysis. We then demonstrate the efficiency of this pipeline on the longitudinal comparison of multiple sclerosis patients at an early stage of the disease: right after their first clinically isolated syndrome (CIS) and three months later. We demonstrate the predictive value of ODF-based scores for the early detection of lesions that will appear or heal.     

Observation of gastro-esophageal reflux by MRI: a feasibility study

Purpose  To evaluate the feasibility of detecting and measuring gastro-esophageal reflux (GER) with esophageal MR fluoroscopy in patients suffering from heartburn. Materials and methods  Twenty patients with heartburn underwent esophageal MR fluoroscopy. The T1-FFE sequence was applied for MR imaging. We examined the frequency and the level of GER on MR images. Based on the MRI observations, patients were classified into four MRI grades (grade 1–4). Endoscopic findings were categorized into five grades (grade 0 to D). The overall MRI grade, Carlsson’s questionnaire score, and endoscopic findings were compared. Results  GER was observed with MR fluoroscopy in 19 of 20 patients. GER was observed only several times in three patients, and much more frequently in the remaining 16 patients. Elevated levels of GER reached the lower, middle-to-upper esophagus, and the hypopharynx. The observed MRI grades were grade 1 = 1 patient, grade 2 = 3 patients, grade 3 = 2 patients, and grade 4 = 13 patients. There was no statistical correlation between the questionnaire score and the MRI grade. Also, there was no correlation between the grade of endoscopic findings and MRI grade. Six patients demonstrated continuous reflux on MRI did not show mucosal injury at endoscopy. Conclusion  Esophageal MR fluoroscopy may be a useful diagnostic tool for GERD for its ability to show GER, even in patients with no mucosal injury, and for suggesting the cause of the reflux.     

膝关节损伤的MRI诊断及临床应用探讨(附35例分析)

目的探讨膝关节损伤的MRI特点、病理基础及临床意义。方法分析35例膝关节损伤的MRI资料。结果半月板损伤23例,MRI表现为黑色的半月板内出现结节状、线状、放射状裂隙样异常高信号、延伸达或未及关节软骨面两种。前交叉及后交叉韧带损伤9例,MRI表现为在条索状黑色韧带影中出现短T1长T2异常高信号,韧带变形,呈波浪状或不连续,胫骨移位。内侧、外侧副韧带损伤5例,表现为信号增高、形态增粗、边缘模糊。隐匿性骨折4例,表现为干骺端边界模糊的片状T1低信号影,T2信号多样。结论MRI对膝关节半月板、韧带损伤及隐匿性骨折的诊断有重要的临床意义,可对治疗方案的选择提供详尽而可靠的依据。     

Aberrant cerebral blood flow in tinnitus patients with migraine: a perfusion functional MRI study

PurposeMigraine is often accompanied with chronic tinnitus that will affect the cerebral blood flow (CBF) and exacerbate the tinnitus distress. However, the potential relationship between migraine and tinnitus remains unclear. This study will investigate whether aberrant CBF patterns exist in migraine patients with tinnitus and examine the influence of migraine on CBF alterations in chronic tinnitus.Materials and methods Participants included chronic tinnitus patients (n = 45) and non-tinnitus controls (n = 50), matched for age, sex, education, and hearing thresholds. CBF images were collected and analyzed using arterial spin labeling (ASL) perfusion functional magnetic resonance imaging (fMRI). Regions with major CBF differences between tinnitus patients and non-tinnitus controls were first detected. The effects of migraine on tinnitus for CBF alterations were further examined. Correlation analyses illustrated the association between CBF values and tinnitus severity as well as between CBF and severity of migraine.ResultsCompared with non-tinnitus controls, chronic tinnitus patients without migraine exhibited decreased CBF, primarily in right superior temporal gyrus (STG), bilateral middle frontal gyrus (MFG), and left superior frontal gyrus (SFG); decreased CBF in these regions was correlated with tinnitus distress. There was a significant effect of migraine on tinnitus for CBF in right STG and MFG. Moreover, the severity of migraine correlated negatively with CBF in tinnitus patients.ConclusionsChronic tinnitus patients exhibited reduced CBF in the auditory and prefrontal cortex. Migraine may facilitate a CBF decrease in the setting of tinnitus, which may underlie the neuropathological mechanisms of chronic tinnitus comorbid with migraine.