Gerstmann-Sträussler syndrome — A variant type: amyloid plaques and Alzheimer's neurofibrillary tangles in cerebral cortex

Summary This report presents a variant of Gerstmann-Sträussler syndrome (GSS). A 53-year-old female had developed slowly progressive dementia and atactic gait since the age of 45. No myoclonic jerks and periodic synchronous discharges were observed throughout the illness. The neuropathological study revealed that many amyloid plaques and widespread Alzheimer's neurofibrillary tangles (NFTs) appeared in the cerebral cortex. Characteristically, the plaques reacted with anti-prion protein and none of them reacted with anti- protein, and they were made of many components, including amyloid cores, macrophages laden with lipid granules and/or degenerated neurites. Neuropil threads were seen mainly in amyloid plaques. Moreover, plaques appeared which were confluent and laminar in arrangement in the fifth and sixth cortical layers and had a close relationship to the neuronal loss. There was no spongiform change in the cerebral cortex or cerebellum. The cerebellum was almost intact except for a few amyloid plaques. Ultrastructurally, some of the plaques simulated kuru plaques and others had many degenerated neurites possessing paired helical filaments and other accumulated organelles. GSS has been proposed to include cases with progressive ataxia, dementia and massive multifocal plaques in the brain with or without cerebral spongiform changes. The case presented here is a very peculiar case of GSS. Recently, similar cases have been reported in some large families, diagnosed as familial Alzheimer's disease. These cases may be a telencephalic form with numerous NFTs of GSS.     

EEG and Seizures in Children with Hemolytic–Uremic Syndrome

The EEG results of 11 children, ages 1-15 years, who presented with hemolytic-uremic syndrome complicated by seizures 3-10 days after the prodrome were studied. In four children who experienced generalized tonic-clonic seizures, the EEGs demonstrated diffuse delta slowing with no focality. All recovered without neurological deficit or a residual seizure disorder. Of seven children who experienced partial seizures, six had structural lesions on cranial computed tomography and residual focal neurological deficits with epilepsy. The EEGs in two patients revealed focal spikes and slowing consistent with the lateralization of the partial seizures, in four it was characterized by atypical "burst suppression," and in one showed epochs of high-amplitude delta slowing alternating with generalized suppression. Although episodic and generalized burst suppression is usually regarded as a grave prognostic indicator, all four subjects recovered.     

Peripheral nerve involvement in Churg-Strauss syndrome

Summary Peripheral neuropathy associated with bronchial asthma, multisystem organ dysfunction and idiopathic hypereosinophilia may be found in Churg-Strauss syndrome, hypereosinophilic syndrome and polyarteritis nodosa. Some authors have diagnosed their patients according to the presence in tissue biopsies of the three histological criteria of Churg and Strauss (necrotizing vasculitis, tissue eosinophilic infiltration, extravascular granulomas). We have observed three patients with a common history of a prodromal phase of allergic diseases (bronchial asthma and rhinitis) followed by a vasculitic phase with mononeuritis multiplex, purpura and arthritis, associated with hypereosinophilia of more than 1500 cells/mm³. All responded well to steroid treatment. Sural nerve biopsy revealed true vasculitis in two of these cases and a mild perivascular inflammatory infiltration in the other. On the basis of their characteristic clinical pattern, we think that our cases best fit the diagnosis of Churg-Strauss syndrome even though the typical histological features were not found in the sural nerves examined.     

Reliability of Transesophageal Pacing in the Assessment of Sinus Node Function in Patients with Sick Sinus Syndrome

The purpose of this study was to find out whether transesophageal pacing could be utilized for assessment of sinus node function in patients with sick sinus syndrome (SSS). In 17 patients with SSS (study group) we compared the results of sinus node tests obtained both in the basal state and after pharmacological autonomic blockade by endocavitary stimulation and, 24 hours later, by transesophageal pacing. In another group of 17 patients with SSS (control group), we compared the results obtained by two endocavitary studies. In "study group", sinus cycle length (SCL) and corrected sinus node recovery time (CSRT) did not show significant differences between the two studies both in the basal state and after autonomic blockade, whereas sinoatrial conduction time (SACT) was more prolonged during esophageal pacing (P less than 0.01). In "control group", sinus node measures did not show significant differences between the two studies. In the "study group," the following coefficients of correlation were obtained in the basal state; SCL, r = 0.65, CSRT, r = 0.57, SACT, r = 0.52 and after autonomic blockade: SCL, r = 0.95, CSRT, r = 0.62 and SACT, r = 0.53. In the basal state, the correlation for SCL and CSRT between the two studies was lower in the "study group" than in the "control group" (P less than 0.05), whereas after autonomic blockade the correlation for sinus node measures did not show significant differences between the two groups of patients. These data suggest that transesophageal study influences the autonomic tone regulating the sinus node; however, it is not responsible for important variations in sinus node measures.(ABSTRACT TRUNCATED AT 250 WORDS)     

Consequences of fluid absorption during transurethral resection of the prostate using distilled water or glycine 1.5 per cent

This prospective and randomized study compared the consequences of two irrigating fluids, distilled water and glycine for transurethral prostatectomy. Forty-nine consecutive unselected patients undergoing transurethral resection of the prostate with spinal anaesthesia were investigated. The irrigating fluid was either distilled water (group A, 24 patients) or glycine 1.5 per cent (group B, 25 patients). The absorption of irrigating fluid was measured, all surgical events and any clinical signs of TURP syndrome during and after surgery were recorded. Early signs of TURP syndrome were observed in one patient in group A and in four in group B without further consequence. From all the biological variables, only plasma protein concentration, haematocrit, free plasma haemoglobin and free bilirubin concentrations were found to have changed. Plasma protein concentration and haematocrit decreased significantly during and after surgery in the two groups. Free plasma haemoglobin increased significantly with time: a significantly higher concentration was observed in group A than group B. Free bilirubin concentration increased with time in the two groups and was statistically greater in group A. With the two irrigating fluids, we observed a significant amount of haemolysis and haemodilution without clinical consequences. A low irrigating fluid pressure, a short resection time, and the use of spinal anaesthesia seems to us to be essential. Close observation of patients following transurethral prostatectomy is needed but the choice of the irrigating fluid does not seem to be important. Cette étude prospective et randomisée a comparé les conséquences de deux liquides d’irrigation, l’eau distillée et le glycocolle au cours de la chirurgie prostatique par voie basse. Quarante-neuf patients consécutifs, non sélectionnés, bénéficiant d’une résection transuréthrale de prostate sous rachianesthésie, sont étudiés. Le liquide d’irrigation est soil l’eau distillée (groupe A, 24 patients), soit le glycocolle à 1.5 pour cent (groupe B, 25 patients). L’absorption des liquides d’irrigation, les incidents chirurgicaux et les signes cliniques du syndrome de réabsorption sont systématiquement notés. Des signes caractéristiques du syndrome de réabsorption sont observés dans un cas dans le groupe A et dans quatre cos dans le groupe B sans conséquence ultérieure. Seuls la protidémie, l’hématocrite, l’hémoglobine plasmatique libre et la bilirubine libre changent significativement. L’hémoglobine plasmatique libre augmente significativement dans les deux groupes, avec un taux plasmatique significativement plus élevé dans le groupe A. Avec les deux liquides d’irrigation, on observe une hémolyse et une hémodilution sans conséquence clinique. Un temps de résection court, un faible niveau de pression d’irrigation, l’utilisation de l’anesthésie rachidienne nous semblent trés importants. Une surveillance clinique et biologique attentive pendant et après la résection transuréthrale de prostate sont nécessaires; en revanche, le choix du liquide d’irrigation ne semble pas l’élément essentiel.     

SARS冠状病毒N蛋白单克隆抗体的制备及鉴定

目的 制备SARS冠状病毒(SARS-CoV)N蛋白特异性单克隆抗体(McAb)，为SARS的快速诊断及致病机制的研究提供实验材料。方法 用纯化的重组SARS-CoVN蛋白免疫BALB/c小鼠，经细胞融合和亚克隆后获得分泌针对N蛋白的杂交瘤细胞株，用Western blot和间接免疫荧光法检测这些细胞株分泌的单克隆抗体特异性，并将N蛋白分3段表达初步定位单克隆抗体识别表位所在区域。结果 通过细胞融合和3轮克隆化，筛选出分泌抗N蛋白的6个杂交瘤细胞株。Western blot及免疫荧光显示，获得的McAb可与SARS-CoVN蛋白及SARS-CoV发生特异性反应，有4个细胞株分泌的抗体的识别位点位于N蛋白N端，2个位于C端。结论 获得了SARS-CoV特异性单克隆抗体并进行了初步定位，可用于SARS的早期诊断及致病机制研究。     

Baraitser–Winter cerebrofrontofacial syndrome: Report of two adult siblings

Baraitser–Winter cerebrofrontofacial syndrome (BWCS) is a rare, autosomal dominant condition that is characterized by intellectual disability, distinctive craniofacial features, structural brain abnormalities, seizures, microcephaly, hearing loss, and ocular colobomas. The first three cases were described in 1988 by Baraitser and Winter and included two siblings and an unrelated third patient. Subsequently, causative missense variants in the ACTB and ACTG1 genes were identified, with de novo occurrence in patients with the condition. Herein, we describe two adult siblings who were born to unaffected parents and who were diagnosed with BWCS in their fourth and sixth decade of life following exome sequencing performed for intellectual disability. We review the literature reports of adult patients with BWCS to document the clinical features and phenotypic variability that can occur later in life. This is the first molecularly confirmed report of germline mosaicism in BWCS and one of only a few reports to describe two BWCS patients belonging to the same family.     

Costello syndrome: Clinical phenotype,genotype, and management guidelines

Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS. Due to ubiquitous HRAS gene expression, CS affects multiple organ systems and individuals are predisposed to cancer. Individuals with CS may have distinctive craniofacial features, cardiac anomalies, growth and developmental delays, as well as dermatological, orthopedic, ocular, and neurological issues; however, considerable overlap with other RASopathies exists. Medical evaluation requires an understanding of the multifaceted phenotype. Subspecialists may have limited experience in caring for these individuals because of the rarity of CS. Furthermore, the phenotypic presentation may vary with the underlying genotype. These guidelines were developed by an interdisciplinary team of experts in order to encourage timely health care practices and provide medical management guidelines for the primary and specialty care provider, as well as for the families and affected individuals across their lifespan. These guidelines are based on expert opinion and do not represent evidence‐based guidelines due to the lack of data for this rare condition.     

FG syndrome in a premature male

A 30-week premature male infant is presented with dolichocephaly, frontal bossing, down-slanting palpebral fissures, hypertelorism, long philtrum, micrognathia, cleft palate, and imperforate anus. He is the fifth patient to be presented with FG syndrome and sensorineural deafness. The patient's syndromic manifestations became more obvious during an inpatient observation period of 3 months.