Effect of genetic counselling on the prevalence of Huntington's chorea

The relative fertility of sons and daughters of patients with Huntington's chorea was found to be a little under 0.5 if they had been told of their risk of transmitting the disease before they had started their families. The effect was much the same in those who had attended the genetic clinic at The Hospital for Sick Children on a single occasion and those who had been told of their risk directly, or indirectly through the patient's spouse or family doctor, by the neurologist who was looking after their affected parent at the National Hospital for Nervous Diseases. If all offspring of patients were informed of their risk the effect on the prevalence of the disorder would be substantial, especially if the mutation rate is low and the reproductive fitness of patients in the past has been close to 1.0. Men and women at risk of developing the disease should not be seen on just one occasion, however: they need continued support by being seen regularly at a special neurological genetic clinic.     

Bird Keeper's lung without bird keepinge

The identification of disease inducing allergens in hypersensitivity pneumonitis can be very problematic, and only by a thorough analysis of anamnestic data the source of allergen can be identified. We report a case of a 32-year-old female diagnosed with hypersensitivity pneumonitis caused by the inhalation of budgerigar antigen in her home. She had been living there for two years and had never been a bird keeper at all. The former proprietor of the house was a budgerigar keeper for years. When we detected precipitating antibodies against different antigens including pigeon and budgerigar antigens as well as hay and Aureobasidium pullulans, the source of antigen exposition was not definitely clear. In the serum of our patient we found precipitating antibodies against protein structures extracted from dust samples from the patient's home, which were not detected in the serum of her husband. Using Western blots of budgerigar serum and of the dust sample from the patient's home we could demonstrate an IgG reactive banding pattern in our patient's serum. The banding pattern against budgerigar serum correlated very closely to that of a control patient, who was a budgerigar keeper with hypersensitivity pneumonitis. The patient's husband reacted neither against budgerigar serum nor against the dust sample, while he and his wife showed double banding at about 9 kDA, when their serum was exposed to dust from a home free of bird keeping. These results point to the fact, that the house dust sample of our patient contained budgerigar antigen, leading to an indirect antigen expositon causing hypersensitivity alveolitis. However, the positive reaction of the patient serum against the protein extract from the dust sample of her home needs further confirmation by inhibition experiments using budgerigar antigen. - Our patient received a prolonged treatment with corticosteroids, and after about one year the vital capacity of the lungs, which was reduced by 50% at the beginning of the treatment, returned to normal. The patient is still living in her home. Although she has been off medication for one year, lung function has not deteriorated. This fact points to a reduction of the amount of antigen in the patient's home.     

Fingerprint Patterns in Huntington's Chorea and Parkinson's Disease

In the course of a continuing search for means of predicting Huntington's chorea before the onset of neurological symptoms, a study of fingerprint patterns was undertaken, using the technique employed by Hodges and Simon in the investigation of patients with Wilson's disease. Fingerprint patterns of 61 patients with Huntington's chorea and 50 with Parkinson's disease were compared with norms established by Scotland Yard. Although an increased incidence of the “whorl” pattern was seen in the left second and third fingers in patients with Huntington's chorea, this finding could not be interpreted as having diagnostic or prognostic value as it was found also in some normal subjects and in occasional cases of Parkinson's disease. The pattern supposedly characteristic of Wilson's disease was also seen in persons with Huntington's chorea.     

Choreoacanthocytosis in a Chinese patient--a case report

A 50-year old Chinese woman with the rare neurological disorder of Choreoacanthocytosis is described. Her illness is characterised by seizures, buccolingual dyskinesia, choreiform movements, arreflexia and mild sensorimotor polyneuropathy. Acanthocytes were present in her peripheral blood in large numbers but the serum lipid profile was normal. Her features are consistent with those so far described in Caucasian and Japanese patients. The disease differs from Huntington's chorea in that there are acanthocytes, peripheral neuropathy, and metal function remains relatively intact.     

Juvenile variant of Huntington's chorea. An expression of disturbed neurotransmission

A case of a young woman suffering from a juvenile variant of Huntington's chorea, in which rigidity presented as the predominant motor abnormality is reported. The patient's symptoms were relieved by therapy with levodopa. The underlying disturbance of neurotransmission is discussed.     

Confidentiality and Huntington's chorea.

A doctor has duties towards his patients of both confidentiality and veracity and at times these may conflict, as in the following case. A mother who has the symptoms of Huntington's chorea does not wish her daughters to know. The doctor must try to make her realise how valuable the information can be to the daughters, and thus obtain her consent to inform them. If the mother's consent cannot be obtained, then the doctor must tell the mother that he cannot allow her attitude to deprive the daughters of this information, especially at this crucial time as they plan to have children. The well-being of the daughters' future families must take precedence over the mother's desire for secrecy regarding her condition.     

Clonazepam in the treatment of choreiform activity.

In a limited study, clonazepam, a new benzodiazepine derivative, has been found to be effective in suppressing choreiform movements in three patients with Huntington's chorea, three patients with non-familial chorea, and in one patient with senile chorea. In two patients with chorea of doubtful aetiology the response was not very satisfactory. A simple method was used to assess objectively the effect on choreiform movements. The effective dose varied from 3-5 to 5-5 mg a day. The drug was well tolerated by most of the patients.     

非缺失型女性Duchenne型肌营养不良症患者短串联重复序列多态性分析

目的检测1例女性Duchenne型肌营养不良症(DMD)患者Dystrophin基因的突变情况及其短串联重复序列多态性,以探讨其发病机制。方法用多重PCR方法检测1例女性DMD患者的Dystrophin 基因,并用PCR结合基因扫描的方法连锁分析该患者及其家系的5个微卫星DNA位点(STR-44、45、49、40、5' DysⅡ)多态性。结果该患者和其儿子均为非缺失型DMD。短串联重复序列多态单倍型连锁分析发现女性DMD患者STR单倍型有两种情况:(1)和其患病的儿子Ⅳ-1具有一样的单倍型,该单倍型来自其未患病的母亲Ⅱ-1;(2)因该女性DMD患者儿子的第45内含子缺失,该患者的母亲有可能是嵌合体,该女性DMD患者只遗传了父亲的等位基因,则她的单倍型与其母亲及患病的儿子都不同。结论该女性患者由Dystrophin基因突变引起的可能性较小,她和患病的儿子的单倍型可能相同或不相同,说明其发病与短串联重复序列多态性关系不密切。     

Psychological treatment of phobic anxiety associated with adjuvant chemotherapy

A 50-year-old patient with breast cancer was about to withdraw from her adjuvant chemotherapy regimen because of a long-standing phobia about being injected, which had been compounded by anxieties that were associated with the severe side-effects of adjuvant chemotherapy. She experienced a conditioned nausea response to hospital and medical situations. A psychological programme that incorporated relaxation training, systematic desensitization by way of the patient's visual imagination and videotape modelling, allowed her to complete the course of chemotherapy and to feel less anxious in hospital and medical settings.     

非缺失型女性Duchenne型肌营养不良症患者短串联重复序列多态性分析

目的 检测1例女性Duchenne型肌营养不良症(DMD)患者Dystrophin基因的突变情况及其短串联重复序列多态性。以探讨其发病机制。方法用多重PCR方法检测l例女性DMD患者的Dystrophin基因，并用PCR结合基因扫描的方法连锁分析该患者及其家系的5个微卫星DNA位点(STR-44、45、49、40、5’DysⅡ)多态性。结果 该患者和其儿子均为非缺失型DMD。短串联重复序列多态单倍型连锁分析发现女性DMD患者STR单倍型有两种情况：(1)和其患病的儿子Ⅳ-1具有一样的单倍型，该单倍型来自其未患病的母亲Ⅱ-1；(2)因该女性DMD患者儿子的第45内含子缺失。该患者的母亲有可能是嵌合体，该女性DMD患者只遗传了父亲的等位基因，则她的单倍型与其母亲及患病的儿子都不同。结论该女性患者由Dystrophin基因突变引起的可能性较小，她和患病的儿子的单倍型可能相同或不相同，说明其发病与短串联重复序列多态性关系不密切。     

Personal view:

A 34-year-old British woman who was told perfunctorily by her surgeon that she had to have a mastectomy describes her dismayed reaction, her search for other advice, and her subsequent choice of radiotherapy for treatment of her breast malignancy. Prior maintains that, unless there is a clear medical consensus that one form of treatment is superior to another in terms of survival, the patient must be given information on the alternatives and "must be able to participate in any decision on what is to be done with her body."     

Successful pregnancy in a patient with familial sea-blue histiocyte syndrome

A 27-year-old Indian woman at 23 weeks' gestation presented with decompensated liver cirrhosis, coagulopathy, restrictive lung disease with cor pulmonale and preeclampsia. She was diagnosed to have sea-blue histiocyte syndrome (SBHS) at the age of 13 years and was treated conservatively. There was worsening liver, respiratory and bone marrow function as the pregnancy progressed. She underwent a successful pregnancy despite her poor medical condition and advanced disease state. We described the first case of familial SBHS in a pregnant patient from Asia.     

Origin and Migration of Huntington's Chorea in Canada: Preliminary Report

This preliminary report is part of a fullscale investigation of Huntington's chorea throughout the world. Data were obtained on some 820 possible cases of Huntington's chorea in Canada, and they were of sufficient quality in 633 cases to enable pedigrees to be drawn up of 104 families. The origin of 75 of these families was traced outside Canada. It was found that 55 of these kinships originally came from the British Isles, contrary to the prevalent feeling that incriminated United States sources. Only 57 of the 633 cases had moved from their first province of residence at the time of reporting. Thus, large and frequent migrations are not the rule, in the Canadian group, as had been previously reported by other authors.     

线粒体糖尿病患者三例及其家系的临床及基因检测分析

背景　线粒体糖尿病是一种特殊类型糖尿病，其早期临床表现不典型，易被误诊从而耽误治疗；基因检测是诊断线粒体糖尿病的主要手段，也是当前研究的热点。目的　对3例临床疑诊为线粒体糖尿病的患者及其家系成员进行线粒体基因测序，明确诊断，指导精准治疗。方法　选取2017-2019年在安徽医科大学第一附属医院及六安市人民医院内分泌科疑诊为线粒体糖尿病的3例患者，将3例先证者及7名家系成员纳入研究，分析其临床特征、实验室检查结果，并行线粒体基因测序。结果　3例疑诊患者及其部分家系成员基因测序结果显示存在线粒体tRNA 3243A→G点突变，明确诊断为线粒体糖尿病。对家系成员的分析显示部分成员存在该位点突变，已诊断为糖尿病，患者1家系成员基因检测显示其母亲、哥哥、女儿均为tRNA 3243A→G基因阳性者，其中1例虽有该基因突变，但目前尚未表现为糖尿病。结论　对于临床疑诊为线粒体糖尿病的患者应积极对患者及其家系成员进行基因检测，以求明确诊断及指导治疗。     

The final illness in cancer: the widow''s perspective.

Widows of cancer patients were compared with other widows in general and with widows of men with chronic cardiovascular disease in particular, special attention being given to the vicissitudes of the final illness. Despite the recent emphasis on the need for open communication about the impending death between the dying patient and his family, interviews with 73 women whose husbands had died of cancer revealed that 40% of those who had been told their husband was dying refused to accept the warning. Only 29% of the couples openly discussed the possibility of the husband dying of his disease. More than half of those who did not talk with their husband about the impending death reported that this made no difference to their initial adjustment to bereavement. The stress for a woman of her husband's final illness leads to an especially difficult bereavement period; for example, significantly more widows of cancer patients than of patients with other illnesses perceived themselves to be in poor health during the initial bereavement period. Some of the problems specific to cancer patients and their families are described, along with recommendations for their alleviation.     

Acquired nonmalignant tracheoesophageal fistula

Acquired nonmalignant tracheoesophageal fistula is a rare clinical entity and a difficult problem to diagnose and manage. We report a 59-year-old woman diagnosed with a tracheoesophageal fistula secondary to prolonged intubation. The diagnosis was delayed for a year, hence her mild symptoms; cough and dysphagia mainly to liquids. These symptoms were thought to be side effects of her psychiatric medications especially that she had a buccal and lingual dyskinesia. She later had a trial of conservative treatment that failed and then she underwent surgical resection of the fistula and interposition of a muscle flap. Acquired nonmalignant tracheoesophageal fistula is a preventable disease in intubated patient if some measures are taken, but even with the use of the newer endotracheal tubes (high-volume, low-pressure cuffs) this complication can still occur. The surgical treatment remains the best option.     

Protein S deficiency and lower-extremity arterial thrombosis: complicating a common presentation

A 42-year-old woman presented to the emergency department with progressive painful discoloration of the digits of her right foot and symptoms previously diagnosed as neuroma. She was admitted to the hospital for dorsalis pedis arterial occlusion and ischemic foot pain. Despite attempts to restore perfusion to the right leg, ischemia of the right foot persisted and progressed to digital gangrene. The patient subsequently required right transmetatarsal amputation and eventually below-the-knee amputation. After extensive inpatient vascular and hematologic work-up of this otherwise healthy woman, test results revealed that she had protein S deficiency, hepatitis C, and human immunodeficiency virus type 1. In addition to describing this patient's evaluation and treatment, we review protein S deficiency, including its correlation with human immunodeficiency virus type 1 infection and laboratory diagnosis. This case promotes awareness of protein S deficiency and serves as a reminder to the physician treating patients with vascular compromise and a history of human immunodeficiency virus type 1 to include protein S deficiency in the differential diagnosis.     

Is it in the best interests of an intellectually disabled infant to die?

One of the most contentious ethical issues in the neonatal intensive care unit is the withdrawal of life‐sustaining treatment from infants who may otherwise survive. In practice, one of the most important factors influencing this decision is the prediction that the infant will be severely intellectually disabled. Most professional guidelines suggest that decisions should be made on the basis of the best interests of the infant. It is, however, not clear how intellectual disability affects those interests. Why should intellectual disability be more important than physical disability to the future interests of an infant? Is it discriminatory to base decisions on this? This paper will try to unravel the above questions. It seems that if intellectual disability does affect the best interests of the child it must do so in one of three ways. These possibilities will be discussed as well as the major challenges to the notion that intellectual disability should have a role in such decisions. The best interests of the child can be affected by severe or profound intellectual disability. It is, though, not as clear‐cut as some might expect.The following case is fictitious (the medical and ethical issues, however, are real and not uncommon).Bella is born prematurely at a gestational age of 28 weeks (12 weeks premature). She is reasonably healthy at birth, is taken to the neonatal intensive care unit and makes good initial progress. At 1 week of age, however, she develops a life‐threatening intestinal infection (necrotising enterocolitis). She is resuscitated and transferred to a surgical unit for an urgent laparotomy. At operation almost all of her intestine is found to be necrotic. Her parents are immediately counselled that her long‐term outlook is grim, but they wish everything possible to be done. Bella recovers from the surgery and the infection of her bowel, but is left with insufficient intestine to ever be able to feed normally. She will require nutrition via a surgically inserted intravenous catheter for the remainder of her life. She is expected to have recurrent infections in those catheters, to spend large parts of her infancy and childhood in hospital and is likely to die in childhood. Bella subsequently undergoes magnetic resonance imaging of her brain, which shows that she has suffered diffuse white matter injury from her period of being seriously unwell. It is expected that if she survives, she will be severely cognitively impaired. Further discussions are held with the child''s parents about whether it is in her interest to continue with active treatment.     

Acupuncture Treatment of Obesity

Case HistoryA female patient of 38 years old paid her first visiton Mar.15,2004.The patient complained that sheput on body weight of 20 kg in the past one year,accompanied with fairly good appetite,dryness andtastelessness in mouth,occasional chest distress,loose stool,and a quick temper.She often had a     

Chorea disclosing deterioration of polycythaemia vera

Neurological manifestations occur frequently in polycythaemia. Chorea, however, is a rare complication of the disease. A case of chorea in a patient previously diagnosed with polycythaemia vera is reported. Choreic movements started after measurement of haematological variables showed deterioration. It was considered that this was caused by inappropriate treatment with iron because the chorea was markedly reduced after the two first venesections and normalisation of the packed cell volume and haemoglobin parameters.