How breast cancer presents.

A study of 501 new breast cancers in patients seen in a consulting surgical practice revealed that 87% were in patients 45 years of age or older. The patients had found 83% of the cancers. The distributions of size and stage were the same for the tumours found by the patients and those found by the referring physicians. Two thirds of the cancers had an associated visible clinical sign, demonstrating the importance of inspection in the examination of the breast. Dimpling, sometimes apparent only on manipulation of the tumour, was present with 264 of the cancers and was often associated with "minimal" lesions. Mammography was done for 63 of the breast cancers but it missed 27. Of the physician-found cancers 15 were in patients who had already had breast cancer, 4 were in patients presenting with symptomatic metastases and 14 were in women presenting with other disorders. Of the 52 cancers found by periodic examination 3 were locally advanced and 21 had axillary metastases, while among the 28 "early" cancers 12 were in women who were senile, mentally defective or psychotic. Only four of the cancers found by the physicians were in women under age 45; two were rapidly fatal, one had an axillary metastasis, and the fourth was in a woman who had had cancer of the opposite breast. The remaining 284 lesions found by periodic or routine examination in women under age 45 were benign. Thus, periodic or routine examination for unsuspected breast cancer in women under age 45 seems unjustified except in those who have already had breast cancer.     

Canadian atrial fibrillation anticoagulation study: were the patients subsequently treated with warfarin? Canadian Atrial Fibrillation Anticoagulation Study Group.

OBJECTIVE: To determine the effect of the results of clinical trials on the behaviour of patients and physicians, the authors ascertained the proportion of patients participating in the Canadian Atrial Fibrillation Anticoagulation (CAFA) study who started or continued warfarin therapy at the end of the study and identified factors affecting the decision to use or not use warfarin. The CAFA study was a double-blind, randomized, placebo-controlled, multicentre study to evaluate the efficacy of warfarin in preventing stroke among patients with nonrheumatic atrial fibrillation. Recruitment and follow-up were stopped early because two other similar studies had shown a decrease in the rate of stroke among patients treated with warfarin. DESIGN: Mail survey 21 months after the end of the study. PARTICIPANTS: The personal physicians of 336 patients who had participated in the CAFA study. OUTCOME MEASURES: Type of antithrombotic therapy the patients had received since the CAFA study ended for patients who were not receiving warfarin, the reasons they were not. RESULTS: Questionnaires concerning 254 (76%) of the patients who had participated in the study were returned. Since the end of the CAFA study, 153 (60%) of these patients had been treated continually with warfarin, 14 (6%) had been treated with warfarin but had subsequently stopped taking it, 59 (23%) had taken acetylsalicylic acid (ASA) continually, 5 (2%) had been taking ASA but had subsequently stopped taking it, and 23 (9%) had not taken either drug. The responding physicians stated that 58 (67%) of the patients who were not treated with warfarin did not wish to take the drug. The patients who had received warfarin during the CAFA trial were more likely to be treated with warfarin after the trial (75%) than were those who had received a placebo (56%) (p = 0.001). The probability of the patients'' being treated with warfarin also depended on which study centre they had been treated in (p = 0.001). CONCLUSIONS: Of the patients in the CAFA study for whom questionnaires were received, only 167 (66%) had been treated with warfarin after the end of the study. The patients were more likely to have been treated with warfarin after the study if they had received warfarin during the study. The positive results of clinical trials, on their own, are not enough to fully change the behaviour of patients and physicians.     

Liver lesions in BALB/C mice induced by an anabolic androgen (Decadurabolin), with and without pretreatment with diethylnitrosamine

Male BALB/C mice were treated with the anabolic androgen Decadurabolin (17 beta-hydroxy-19-nor-androst-4-ene-17 beta-n-decanoate) (DecaD) with and without pretreatment with diethylnitrosamine (DEN). Treatment with DEN alone caused development of severe hepatocytic dysplasia in all animals; 11/11 had cystadenomas and 3/11 haemangiomas, both of which were benign. Mice treated with DecaD alone developed only moderate to severe hepatocytic dysplasia. Treatment with DecaD after DEN induced neoplasms in the livers; 15/15 had severe dysplasia; 14/15 had cystadenomas, 2/15 had haemangiomas, and 4/15 developed nodular proliferation. Single hepatomas were seen in 4/15 livers, two of which also had multiple hepatomas. Control animals had normal liver histology. We conclude that DecaD enhances the hepatocarcinogenicity of DEN, especially with respect to neoplastic lesions in hepatocytes.     

Therapeutic abortion and its psychological implications: the Canadian experience.

Approximately 9 months after a legal therapeutic abortion, 188 Canadian women were interviewed. One half were single and the rest were married, separated or divorced. They were matched closely for a number of demographic variables with control women who had not had abortions. Neurotic disturbance in several areas of personality functioning was assessed from questionnaire responses. Out of 27 psychological scales, differences between the abortion and control groups were found on only 3: in general, women who had had abortions were more rebellious than control women, abortion tended to be associated with somewhat greater depression in married women, and single women who had had abortions scored higher on the shallow-affect scale. However, all the personality scores were well within the normal range. Perceived social support was strongly associated with favourable psychological reactions after abortion. Use of contraceptives improved greatly after the abortion, when over 90% of women reported using contraceptives regularly.     

Surgical management of the radiated chest wall

Fifty consecutive patients with radiation-related problems of the chest wall were treated between 1976 and 1984. There were 40 women and 10 men with an average age of 54 years (range 26 to 78 years). Twenty-three patients had radiation ulcers alone, 20 had recurrent cancer, and 7 had infected median sternotomy wounds. Thirty-six had skeletal resections and 44 had soft-tissue resections. The skeleton was reconstructed with Prolene mesh in 12 patients and with autogenous rib in 3. Sixty-three muscles were transposed in 43 patients. Twelve omental transpositions were performed (8 for primary treatment and 4 for salvage of a failed muscle flap). Hospitalization averaged 20.2 days. There was one operative death (at 29 days). Partial flap necrosis occurred in 10 patients. Mesh was removed in three patients. There were 14 late deaths, most from recurrent tumor. The remaining patients had well-healed wounds and a generally improved quality of life. We conclude that aggressive resection and reliable reconstruction are critical considerations in the surgical management of this perplexing clinical problem.     

Vagus nerve stimulation in the treatment of patients with pharmacoresistant epilepsy: our experiences

Vagus nerve stimulation (VNS) for the treatment of refractory partial epileptic seizures with or without secondary generalisation in patients older than 12 years was approved in Europe in 1994 and in the United States in 1997. We have studied the efficacy of VNS in patients with pharmacoresistant epilepsy hospitalized in the Neurology Department of the University Hospital Centre Zagreb. From 1997 to 2001 we have implanted VNS in 11 patients with pharmacoresistant epilepsy, who were magnetic resonance imaging (MRI) negative and from May 2007 to May 2009 in 11 patients with pharmacoresistant epilepsy, 9 of them were MRI positive, and were inoperable due to localisation of the pathomorphologic changes (ganglioglioma, hamartoma, various types of cortical dysplasia, porencephalic cysts), 2 were MR negative. In the group of MRI negative patients 1 patient had complex partial seizures (CPS), 6 patients had CPS with secondary generalisation, 2 patients had primary generalized epilepsy (PGE) including myoclonic, absence, atonic and tonic-clonic seizures, one patient had PGE and CPS, and 3 patients had Lennox-Gastaut syndrome (LGS). In the group of MRI positive patients one patient had elementary partial seizures (EPS) and CPS, two patients had EPS and CPS with secondary generalisation, one patient had CPS, 3 patients had CPS with secondary generalisation, and 2 patients had CPS with secondary generalisation as well as atonic seizures. After continuous follow-up of 11 MRI negative patients during 5 years and 2 MRI negative patients during one year there was decrease in mean-seizure frequency of 51.67%. After continuous follow-up of 9 MRI positive patients during 2 years there was decrease in mean-seizure frequency of 61.9%. The most frequent side effects were hoarseness, throat pain and cough in the "on phase" of the VNS, but they were mild and transitory. We can conclude that VNS was effective mode of therapy in our group of patients with pharmacoresistant epilepsy.     

Auscultatory percussion of the head.

Eighty-nine consecutive patients with suspected intracranial masses were examined by auscultatory percussion in a blind study to assess the sensitivity of the procedure. Each patient underwent computed tomography (CT) of the brain as part of his medical care, and the results were compared with those of auscultatory percussion. Fifty-one of the patients had abnormal CT scans, of whom 44 (86%) had abnormal (positive) findings on auscultatory percussion; seven (13%) yielded false-negative results. Each of the patients with subdural haematomas had distinctly positive findings by auscultatory percussion. Of the 38 patients with normal CT scans, 11 had strokes with hemiparesis, and each had positive findings in the contralateral hemisphere by auscultatory percussion. The remaining 27 patients with normal CT scans were healthy; 25 had normal findings on auscultatory percussion, two (7%) gave false-positive results. Twenty subjects were studied with phonoscopy. Auscultatory percussion is easy to perform and is clinically useful.     

Mortality rates among patients with end-stage renal disease in Canada, 1981-86.

We assessed the mortality rates by age, sex, race, blood type, primary diagnosis, treatment and transplantation history of 8432 patients in Canada for whom end-stage renal disease (ESRD) was diagnosed between 1981 and 1986. Significant differences in the probability of dying were found between those with and without diabetes mellitus, between those who had received a renal transplant and those who had not, between white and nonwhite patients and between various age groups. The mortality rates of the ESRD patients were at least three times higher than those of the general Canadian population. Primary diagnosis and treatment were significantly associated with the risk of dying among the ESRD patients. For those who had received a transplant, the length of time spent waiting for a transplant was positively associated with the risk of death from ESRD. Patients who had received peritoneal dialysis before transplantation had a higher risk of death than those who had received either hemodialysis (risk ratio 1.3) or transplantation (risk ratio 3.2) as the first treatment. No significant differences were found in the cause of death between those who had received peritoneal dialysis and those who had received hemodialysis. Almost half of the deaths among women without diabetes who had received a transplant were due to infection.     

Hemoglobinopathies in a hospital population in Vancouver.

A number of varieties of thalassemia were found to be common in the Vancouver area and in other parts of British Columbia. Of 3117 patients whose blood samples were studied by hemoglobin electrophoresis at the Vancouver General Hospital between Jan 1, 1965 and June 30,1977, 813 had the beta-thalassemia trait, 18 had homozygous beta-thalassemia, 97 had alpha-thalassemia trait, 24 had hemoglobin H disease and 14 had miscellaneous variants. Eight patients had interactions of beta-thalassemia with hemoglobin S,C, D, O arab or Vancouver, and one patient had alpha thalassemia associated with hemoglobin Constant Spring. Twelve other variants were noted. They included hemoglobins B2, E, Q, GHsi Tsou, J Bangkok, British Columbia, KOLN, Lepore, Rampa, Tacoma, St. Claude and an unidentified alpha-chain variant.     

Presence of bar-shaped nuclear chromatin in cell samples from the conjunctiva.

A study was performed on 60 patients, of whom 20 had the dry eye syndrome, 20 had had cataract surgery and 20 belonged to a control group. Twenty percent of the dry eye group and 45% of the post-cataract surgery group had cells with so-called bar-shaped nuclear chromatin (bar-chromatin cells) with a morphology basically akin to those of Anitschkow nuclear changes found in cardiac tissue. Bar-chromatin cells were found in scrapings from different parts of the conjunctiva, mostly in intermediate squamous cells and rarely in goblet cells. However, these nuclear changes were infrequent in the control group. Since the bar-chromatin cells were much more frequent in patients with diseased eyes, we concluded that the findings were possibly of a regenerative nature.     

Medical problems of adults who were sexually abused in childhood.

The aim of the study was to see whether adults who had been sexually abused in childhood were vulnerable to physical symptoms and therefore investigation and intervention. The case histories of seven patients who were aged 22-39, were under the care of three consultant psychiatrists, had experienced childhood sexual abuse, and had a history of medical or surgical intervention were surveyed. The patients had had a mean of 18 contacts with non-psychiatric consultant teams and a mean of eight operations, with a high rate (66-70%) of normal findings. They had experienced many somatic symptoms, which led to investigations and interventions in the specialties of gynaecology, obstetrics, gastroenterology, urology, rheumatology, haematology, orthopaedics, neurology, and neuropsychiatry. The history of childhood sexual abuse was recognised only in the later stages of this medical and surgical intervention. The possibility of childhood sexual abuse should be considered earlier in such cases to prevent further unnecessary intervention.     

Rehabilitation in Disseminated Sclerosis: An Evaluation of 28 Patients

The results of rehabilitation have been described and evaluated in a group of 28 patients moderately severely disabled with disseminated sclerosis between the ages of 19 and 71 years and in a controlled hospital setting. Twenty-three suffered chronic progressive disease and five were in remission from an acute exacerbation. They had had the disease an average of 12.7 years and were hospitalized an average of 5.4 months. On admission, 24 required much assistance with their activities of daily living, six had poor control of elimination, and four were depressed. On discharge, 13 cared for themselves with little or no help, four had overcome their problems of elimination, and three had improved emotionally. A major symptom in 13, fatigue, did not preclude successful performance, but a progression of disease or failure to react steadfastly did. None were gainfully employed. Six years after discharge, 18 of 20 were alive and happy at home.     

13例SCN2A 基因突变相关儿童神经系统疾病表型分析

摘要 目的：总结并分析SCN2A基因突变引起的儿童神经系统疾病相关表型谱特点。方法：采用回顾性研究,收集2018年6月至2021年6月在上海交通大学医学院附属上海儿童医学中心神经内科诊治的患儿,并经二代基因测序检测,纳入SCN2A基因突变者,研究并总结患儿神经系统临床表型特点。结果：共纳入13例SCN2A突变患儿,包括新生突变9例和遗传性突变4例。其中11例患儿伴有癫痫发作,发作年龄为1日龄~1岁11月龄,4例在新生儿期起病 （36%）,1~3 月龄起病2例（18%）,4~12月龄起病2例（18%）,1岁后起病3例（27%）;发作类型中强直阵挛发作、痉挛发作、局灶性发作均各有4例（36%）,阵挛发作1例（9%）。另有2例无癫痫发作的患儿,1例表现为全面性发育迟缓,另一例表现为发育迟缓合并孤独症谱系疾病。11例癫痫患儿中,丛集性发作患儿10例。遗传性突变4例患儿中2例智力、运动发育正常;9例新生突变的患儿中8例伴有运动、智力发育落后,1例发育正常。11例癫痫患儿表型中良性家族性新生儿癫痫1例,新生儿惊厥2例,婴儿痉挛症2例,不能分类的早发性癫痫性脑病3例,儿童期起病的癫痫性脑病2例,热厥附加症1例。结论：SCN2A基因突变引起的儿童神经系统疾病以癫痫表现居多、癫痫表型谱广,少数表现为不伴癫痫发作的发育迟缓和孤独症谱系疾病。     

腰椎骨折患者伤椎置钉与不置钉临床疗效对比分析

目的:探讨腰椎骨折伤椎置钉和不置钉对疗效的影响,以期选择最佳治疗方法。方法:选取2011年6月-2015年6月80例腰椎骨折患者为研究对象,随机分为对照组39例,伤椎不置钉治疗,观察组41例,伤椎置钉治疗,观察治疗后临床效果和相关指标变化。结果:两组在切口长度、手术时间、出血量、住院时间上比较比较无统计学意义(P0.05);两组术后在后凸Cobb角、椎管侵占率上较术前明显下降,椎体高度恢复较术前明显升高,手术前后比较差异显著(P0.05),观察组在手术后6个月、术后12个月、拆除内固定时后凸Cobb角、椎管侵占率明显低于对照组,椎体高度恢复上明显高于对照组,两组比较差异均显著(P0.05),而手术后1周比较差异不显著(P0.05)。结论:腰椎骨折患者伤椎置钉临床疗效满意。     

Scent of a Ewe: transmission of a social cue by conspecifics affects sexual performance in male sheep.

Unlike males from other domestic species, domestic rams (Ovis aries) are not sexually stimulated, as determined by measuring sexual performance, following the opportunity to watch a copulating pair. Previously, we reported that aspects of ram sexual performance were improved when rams interacted with a male conspecific that had mated an estrous ewe. Whether the cues were gender-, estrous state-, or behavior-related was tested in this study. Sexually experienced rams were exposed to male pen mates that had interacted with an estrous ewe, a non-estrous ewe, an estrous ewe with a cloth perineal patch, or a ram, or that had been placed alone in a small pen. The rams were then tested for sexual performance. Rams performed more olfactory investigative behaviors toward pen mates that had interacted with a ewe, regardless of her estrous state, than toward a pen mate that had been exposed to another male. Rams exposed to pen mates that had interacted with a ewe also had shorter postejaculatory and interejaculation intervals and subsequently achieved more ejaculations in standardized sexual performance tests. Results from this experiment confirm that male-male interactions affect sexual performance in male sheep and that olfactory cues likely account for the transfer of information among individuals.     

Follow-up Study of Patients With Cerebral Palsy

Of 319 patients with cerebral palsy recalled for reevaluation 15 years after the initial visit, 10 percent had died. Of the living, 55 percent had spasticity, 32 percent had athetosis, 4 percent had ataxia and 9 percent had mixed spasticity and athetosis; 38 percent had an intelligence quotient (IQ) less than 50, 24 percent between 50 and 79, and 38 percent had IQ above 80. There was a high correlation between overall functional outcome and intellectual level. Severity of physical disability, as measured by hand use, mobility and speech, also correlated with dependence, in part because increased severity of the disability was associated with decreased intellectual capacity generally.Twenty-five years after the initial visit, parental attitudes and personality intactness were evaluated (using the Minnesota Multiphasic Personality Inventory [MMPI]) and were correlated with satisfaction with status in life in 28 persons predicted to be independent on the 15-year study. Twenty (72 percent) of the 28 were satisfied with their status in life and of these, 16 were evaluated (with the MMPI) with 70 percent scoring in the normal range; 13 (65 percent) had parents with a positive attitude. Positive attitude was defined as parental feelings that the handicapped child was a worthy, valuable person, to be encouraged and assisted but not isolated from the world of nonhandicapped people.Careful serial assessment by professional teams combined with repeated long-term counseling of families can result in optimal outcome for the disability level involved, due to the primary role parents play in the development of a child''s character and behavior.     

Sperm-oocyte membrane fusion in the human during monospermic fertilization

Sperm-oocyte membrane fusion has been observed during monospermic fertilization of a human oocyte in vitro. Women were stimulated with both clomiphene citrate and human menopausal gonadotropin and were given human chorionic gonadotropin before a LH-surge. Twelve oocytes, collected at laparoscopy from six women who became pregnant by IVF, were allowed to mature for 7–14 hours in vitro and inseminated with preincubated sperm, fixed between 1–3 hours after insemination, and examined by transmission electron microscopy. Membrane fusion had occurred in one ovum 2 hours after insemination, and the oocyte had resumed maturation and was at anaphase II of meiosis. Cortical granules had been exocytosed, and some of their contents were visible at the surface close to the oolemma all around the oocyte. The sperm that fused with this oocyte was acrosome-reacted and had been partly incorporated into the ooplasm, while the anterior two-thirds of its head was phagocytosed by a tongue of cortical ooplasm. Membrane fusion had occurred between the oolemma and the plasma membrane overlying the postacrosomal segment of the sperm head, posterior to the equatorial vestige. Sperm chromatin had not decondensed, and serial sections revealed a midpiece attached to the basal plate and a tail located deeper in the ooplasm, all devoid of plasma membrane. Supplementary sperm penetrating the inner zona, approaching the perivitelline space, had undergone the acrosome reaction but had a persistent vestige of the equatorial segment of the acrosome with intact plasma membrane. Evidence of sperm chromatin decondensation was seen in other oocytes, 3 hours after insemination, which were at telophase II of meiosis. Eight oocytes penetrated by sperm were monospermic, while four were unfertilized. The general pattern of sperm fusion and incorporation appears to conform to that seen in most other mammals. The study also reveals that sperm have to complete the acrosome reaction before fusing with the egg.     

Neonatal Bacteriuria: A Prospective Study in 1,460 Infants

In a prospective study of 1,460 virtually consecutive neonates 14 (1%) were found to have bacteriuria, established by bladder puncture. Eleven were boys and three girls. Five of the infants with bacteriuria had symptoms suggestive of infection and were treated with antibiotics. The remaining nine were asymptomatic and remained so during a period of observation—five cleared their urine of bacteria without treatment, and four received antibiotics. Only one infant with bacteriuria had bacteraemia. Six infants had more than 10 white blood cells per mm³ in the bladder puncture urine and three had proteinuria. The blood urea was slightly raised in only two of the infants. The intravenous pyelogram was normal in all infants with bacteriuria but eight had slight or moderate vesicoureteric reflux when examined by micturating cystourethrography.     

The fine structure of the developmental stages of the microsporidian Nosema apis Zander

Schizonts, sporonts and sporoblasts of Nosema apis from honey bees collected in the summer and winter were studied with the electron microscope. The nuclei usually had a diplokaryon arrangement. Intranuclear spindles with polar vesicles were associated with division. Schizonts had a single limiting unit membrane, whereas sporonts had a two-layered wall. Sporonts from summer bees had only a thin single limiting membrane in some areas and evidence of endocytosis was sometimes seen in these. Sporonts from winter bees had branched tubular outpocketings from the wall. In sporoblasts, the development of the polar filament was closely associated with a network of dense structures interwoven with a system of tubules evidently of ER derivation; the Golgi complex was associated with this network.