Familial thrombosis: inherited deficiency of antithrombin III.

Several members of a family living on the west coast of Scotland and on one of the islands off the coast had serious thrombotic disease. The plasma antithrombin III (ATIII) concentrations were measured by both functional and immunological assay in all available members of the family. Concentrations were 25% to 66% of normal in 12 people, including all seven with thrombotic disease. The inheritance pattern was characteristic of an autosomal dominant disorder. Thrombotic disease generally affected the leg, mesenteric, and axillary veins, although one man who had died before the study began had had severe arterial atheroma. In women the first thrombotic symptoms usually occurred during pregnancy. None of these patients have developed thrombotic symptoms until they were at least 18, so four younger members of the family who have ATIII deficiency but no thrombotic disease may eventually develop symptoms.     

Clinical characteristics of 24 asymptomatic infections with COVID-19 screened among close contacts in Nanjing,China

Previous studies have showed clinical characteristics of patients with the 2019 novel coronavirus disease(COVID-19) and the evidence of person-to-person transmission. Limited data are available for asymptomatic infections. This study aims to present the clinical characteristics of 24 cases with asymptomatic infection screened from close contacts and to show the transmission potential of asymptomatic COVID-19 virus carriers. Epidemiological investigations were conducted among all close contacts of COVID-19 patients(or suspected patients) in Nanjing, Jiangsu Province, China, from Jan 28 to Feb 9, 2020, both in clinic and in community. Asymptomatic carriers were laboratory-confirmed positive for the COVID-19 virus by testing the nucleic acid of the pharyngeal swab samples. Their clinical records, laboratory assessments, and chest CT scans were reviewed. As a result, none of the 24 asymptomatic cases presented any obvious symptoms while nucleic acid screening. Five cases(20.8%) developed symptoms(fever, cough, fatigue, etc.) during hospitalization. Twelve(50.0%) cases showed typical CT images of ground-glass chest and 5(20.8%) presented stripe shadowing in the lungs. The remaining 7(29.2%) cases showed normal CT image and had no symptoms during hospitalization. These 7 cases were younger(median age: 14.0 years;P=0.012) than the rest. None of the 24 cases developed severe COVID-19 pneumonia or died. The median communicable period, defined as the interval from the first day of positive nucleic acid tests to the first day of continuous negative tests, was 9.5 days(up to 21 days among the 24 asymptomatic cases). Through epidemiological investigation, we observed a typical asymptomatic transmission to the cohabiting family members, which even caused severe COVID-19 pneumonia. Overall, the asymptomatic carriers identified from close contacts were prone to be mildly ill during hospitalization. However, the communicable period could be up to three weeks and the communicated patients could develop severe illness. These results highlighted the importance of close contact tracing and longitudinally surveillance via virus nucleic acid tests. Further isolation recommendation and continuous nucleic acid tests may also be recommended to the patients discharged.     

X-Linked hypophosphatemic rickets: a disease often unknown to affected patients

X-Linked hypophosphatemic rickets (XLH) is an X-linked dominant disorder that is secondary to renal phosphate wasting. Affected individuals frequently present the following characteristics: short stature, lower-extremity deformity, bone pain, dental abscesses, en-thesopathy, rickets, and osteomalacia. Since the disorder is characterized by evident phenotypic abnormalities, we hypothesized that there would be a high degree of knowledge about the disease in affected kindreds. Thus, we constructed a six-page, self-administered questionnaire to determine whether family members are, in fact, aware of their disease and properly diagnosed and treated. We also designed the survey to determine rates of symptoms thought to be associated with rickets/osteomalacia in a population with a lower referral bias than is usually seen in tertiary care centers. We administered the questionnaire to 234 study subjects (57 affected) who were members of one of three large kindreds. Although 62% of affected individuals knew they had some problem with their bones, only 22.6% were told by a physician that they had rickets or osteomalacia. This apparent lack of awareness occurred in spite of 61.1% of affected subjects complaining of bone or joint problems to their personal physician. Indeed, of those patients who had persistent complaints, only 34.5% were told they had rickets or osteomalacia. Only one patient was taking phosphate and vitamin D. The spectrum of symptoms evident in affected subjects compared with normals included: dental abscesses (54.5% vs. 13.0%, P < 0.001), bone pain (45.5% vs. 28.2%, P = 0.027), back pain (51.8% vs. 35.1%, P = 0.036), joint stiffness (48.2% vs. 16.8%, P < 0.001), joint pain (55.4% vs. 31.1%, P = 0.003), weakness (25.0% vs. 10.7%, P = 0.023), and hearing loss (28.6% vs. 9.8%, P = 0.002). Surprisingly, although affected individuals complained of many symptoms due to XLH, they fractured bones less frequently than controls (20% vs. 38.1%., P = 0.018). Our data demonstrate that, despite the presence of disease in family members, few affected subjects knew that they had XLH. Although the presence of symptoms did increase knowledge of disease status, only one-third of symptomatic individuals knew of their diagnosis.     

The Burden of Disease and Health Care Use among Pertussis Cases in School Aged Children and Adults in England and Wales; A Patient Survey

Background

In 2011–2012 a large pertussis outbreak occurred in England. This provided an opportunity to estimate the disease burden in those aged 5 years and over. As pertussis is likely to be under reported both laboratory-confirmed and non-confirmed cases were included.

Methods

Laboratory-confirmed cases of pertussis, as well as their coughing but non-confirmed household members, were sent a questionnaire that collected information on clinical features and quality of life for the most severe day of disease and the day the patient filled in the questionnaire. The EuroQol-5 dimension questionnaire (EQ-5D) was used to evaluate quality of life. The duration of symptoms was obtained by contacting the patient every two weeks until symptoms stopped.

Results

Data for 535 (out of 1262) laboratory confirmed pertussis patients and 44 (out of 140) coughing household contacts was available for analysis. On the most severe day, 56% of laboratory-confirmed cases reported they had 20+ more paroxysms, 58% reported they had a severe cough and 46% reported disruption of sleep for more than 4 hours. For non-confirmed coughing household contacts there were a similar number of coughing spells per day at the height, though the cough was reported to be less severe and to cause less sleep disruption. The main clinical symptoms on the worst day for both were shortness of breath, tiredness, sore ribs and vomiting. The duration of symptoms for both patient groups was around 160 days (162 and 168 days). Under base case assumptions the overall loss of quality of life was 0.097 QALY (0.089–0.106) for confirmed pertussis cases and 0.0365 QALY (0.023–0.054) for coughing household contacts.

Conclusion

Pertussis is a serious disease in those aged 5 years and over, causing disruption of sleep and daily activities over long period of time. The burden of illness due to undiagnosed pertussis is also considerable.     

Unusual MRI findings of dural arteriovenous fistula: Isolated perfusion lesions mimicking TIA

ABSTRACT: BACKGROUND: The diagnosis of transient ischemic attack (TIA) based on clinical history and objective findings, even including multiparametric MRI, can be misleading. We report two patients who presented with TIA-like deficits with isolated perfusion lesions in corresponding areas but were finally diagnosed as transient neurological symptoms associated with dural arteriovenous fistula (dAVF). CASE PRESENTATION: Two patients presented with transient focal neurological symptoms lasting less than one hour. An isolated perfusion deficit with no diffusion change in the clinically relevant area was shown on brain MRI, indicating transient ischemia as the most plausible cause of neurological symptoms. However, cerebral angiography let to diagnosis of dAVF in both cases. Intracerebral hemorrhage occurred after the initial diagnosis of TIA in one patient, and the small area of perfusion abnormality accompanied by the enlarged cortical vein in the other case helped to identify the dAVF through the further investigation. The pattern of perfusion-weighted imaging in both cases revealed increase of mean transit time and relative cerebral blood volume denoting the venous congestion in a clinically corresponding area. CONCLUSION: Reported cases are uncommon clinical presentation of a dAVF, which can be misdiagnosed as TIA on clinical grounds. In rare cases, the isolated perfusion deficits could be attributable to venous congestion, despite the similar pattern of clinical presentation, such as with TIA.     

Temporal trends in cardiovascular demand in EMS: Weekday versus weekend differences

Diagnosed cardiovascular disease has well-reported temporal patterns, with demand distribution peaks in the late morning and greater case numbers on Mondays and in winter. We aimed to report temporal patterns of presumptive cardiovascular disease cases as determined after emergency medical services (EMS) assessment and to characterize the demand distribution by day of the week. We conducted a secondary analysis of all Ambulance Victoria cases in metropolitan Melbourne (Victoria, Australia) between January 2008 and December 2011. Analyzed data included time of call, incident mechanism, location type, final assessment (paramedic “diagnosis”) and patient age. We employed Poisson’s regression to analyze case numbers and trigonometric regression to quantify distribution patterns. The 182?983 cases of presumptive cardiovascular disease observed during the study period constituted 15.2% of total demand. The median age of persons attended was 72 (IQR 57–82) and there was an almost even split between genders (51% female). Peak numbers of most cardiovascular case types occurred between 09:00 and 11:00; the only exception was acute pulmonary edema, which had peak case numbers at 06:00. Trigonometric regression showed distinct time of day distribution patterns, which did not alter by season. Although weekend day demand was lower than on Mondays, due to a different distribution pattern, these differences were not constant over the 24-hour period. There were up to 27% fewer cases at 09:00 and up to 2.8% more cases at 01:00 on weekends compared to Mondays. We have shown that examination of presumptive cardiovascular disease using not only case counts but also demand distribution patterns allows for a greater understanding of ambulance demand. Monday might be the most frequent day for cardiovascular cases but different patterns of demand occur on weekends. Increased knowledge of when different types of cases are most likely to occur will help inform EMS planning, including paramedic capacity and resources.     

Relations between bleeding pattern,endometrial histology,and oestrogen treatment in menopausal women

Vacuum curettage was performed on 348 women who had received various regimens of oestrogen treatment for an average of 9·7 months for climacteric symptoms. In 62 cases (18%) the specimens were unsatisfactory for histological assessment; among the remainder, however, they showed a normal endometrium in 257 cases (90%), cystic hyperplasia in 21 (7%), adenomatous hyperplasia in 7 (2%), and endometrial adenocarcinoma in one. Cyclical unopposed oral oestrogen treatment (98 cases) was associated with a 12% incidence of endometrial hyperplasia, but among those given an additional five-day course of progestogen in each cycle (37 cases) the incidence was only 8%. No case of hyperplasia occurred among 102 women taking regimens including 10 or 13 days of progestogen. Among women treated with subcutaneous oestradiol implants and monthly five-day courses of oral progestogen (50 cases) there was a 28% incidence of hyperplasia including the one case of carcinoma, though some of those with hyperplasia may not have taken the full course of progestogen. Regular withdrawal bleeding during treatment was associated with a lower incidence of endometrial hyperplasia (6%) than unscheduled breakthrough bleeding (28%), but the one patient with carcinoma had experienced regular bleeding only.The risk of developing endometrial carcinoma from oestrogen treatment may be reduced by avoiding the use of unopposed oestrogen regimens, the addition of more than five days'' treatment with a progestogen, and recognising that a regular bleeding response to oestrogen is no guarantee of a healthy endometrium.     

Bronchopulmonary Infection of Lophomonas blattarum: A Case and Literature Review

Human infections with Lophomonas blattarum are rare. However, the majority of the infections occurred in China, 94.4% (136 cases) of all cases in the world. This infection is difficult to differentiate from other pulmonary infections with similar symptoms. Here we reported a case of L. blattarum infection confirmed by bronchoalveolar lavage fluid smear on the microscopic observations. The patient was a 21-year-old female college student. The previous case which occurred in Chongqing was 20 years ago. We briefly reviewed on this infection reported in the world during the recent 20 years. The epidemiological characteristics, possible diagnostic basis, and treatment of this disease is discussed in order to provide a better understanding of recognition, diagnosis, and treatment of L. blattarum infection.     

Genetic Identification Is Critical for the Diagnosis of Parkinsonism: A Chinese Pedigree with Early Onset of Parkinsonism

Background

A number of hereditary neurological diseases display indistinguishable features at the early disease stage. Parkinsonian symptoms can be found in numerous diseases, making it difficult to get a definitive early diagnosis of primary causes for patients with onset of parkinsonism. The accurate and early diagnosis of the causes of parkinsonian patients is important for effective treatments of these patients.

Methods

We have identified a Chinese family (82 family members over four generations with 21 affected individuals) that manifested the characterized symptoms of parkinsonism and was initially diagnosed as Parkinson’s disease. We followed up with the family for two years, during which we carried out clinical observations, Positron Emission Tomography-Computed Tomography neuroimaging analysis, and exome sequencing to correctly diagnose the case.

Results

During the two-year follow-up period, we performed comprehensive medical history collection, physical examination, and structural and functional neuroimaging studies of this Chinese family. We found that the patient exhibited progressive deteriorated parkinsonism with Parkinson disease-like neuropathology and also had a good response to the initial levodopa treatment. However, exome sequencing identified a missense mutation, N279K, in exon 10 of MAPT gene, verifying that the early parkinsonian symptoms in this family are caused by the genetic mutation for hereditary frontotemporal lobar dementia.

Conclusions

For the inherited parkinsonian patients who even show the neuropathology similar to that in Parkinson’s disease and have initial response to levodopa treatment, genetic identification of the molecular basis for the disease is still required for defining the early diagnosis and correct treatment.     

Analysis of the compliance and the related influence factors in the follow-up process of surveillance for Creutzfeldt-Jakob disease in China

Creutzfeldt-Jakob disease (CJD) is a kind of rare, rapidly progressive fatal central nervous system disorders. In China, the surveillance for CJD has started since 2006. As one of the major issues in CJD surveillance, the follow-up process via telephone plays important role in CJD diagnosis and surveillance. Although the follow-up process was conducted by the experiential staffs from CJD surveillance center in China CDC, it is frequently encountered that some interviewed family members do not cooperate well during follow-up. To screen the possible factors influence on the compliances of the interviewees during CJD follow-up, 11 independent variables from patient aspect and 4 variables from interviewee aspect were selected and a questionnaire was prepared. Based on 199 suspected sporadic CJD cases reported to CJD surveillance center in 2013, a telephone-inquiring was conducted and the degree of compliances of the interviewees were given as good, fair or poor. After screened with univariate analysis and evaluated ordinal logistic regression analysis, several indictors, such as the patient gender, CJD diagnosis, numbers of clinical symptoms, continual medical treatment after diagnosis, medical treatment mode, as well as the relationship with the patient and CJD knowledge of the interviewees, showed influence on the compliance in CJD follow-up process significantly. The data here provide for the first time the factors related with the compliances of the interviewed family members of the suspected CJD patients during follow-up process, which supplies useful clue for us to improve CJD follow-up process and increase the capacity of CJD surveillance.     

Familial multiple-system tauopathy with presenile dementia is localized to chromosome 17.

An autosomal dominant presenile dementia affecting 39 individuals in a seven-generation, 383-member pedigree has been studied at Indiana University. In the affected members of this family, clinical symptoms occurred early in life, with an average age at onset of 48.8 years. The presenting clinical features include disequilibrium, neck stiffness, dysphagia, and memory loss. As the disease progresses, further cognitive decline, superior-gaze palsy, and dystaxia also are observed. The average duration from onset of symptoms to death is approximately 10 years. Neuropathologic studies of nine affected individuals showed neuronal loss in several areas of the CNS, as well as argentophilic tau-immunopositive inclusions in neurons and in oligodendroglia. A limited genomic screen by use of DNA samples from 28 family members localized the gene for this disorder to a 3-cM region on chromosome 17, between the markers THRA1 and D17S791. The gene for tau also was analyzed, through samples from the family.     

Emotional Disorders in Pairs of Patients and Their Family Members during and after ICU Stay

Introduction

Patients and family members undergo different experiences of suffering from emotional disorders during ICU stay and after ICU discharge. The purpose of this study was to compare the incidence of anxiety, depression and post-traumatic stress disorder (PTSD) symptoms in pairs (patient and respective family member), during stay at an open visit ICU and at 30 and 90-days post-ICU discharge. We hypothesized that there was a positive correlation with the severity of symptoms among pairs and different patterns of suffering over time.

Methods

A prospective study was conducted in a 22-bed adult general ICU including patients with >48 hours stay. The Hospital Anxiety and Depression Scale (HADS) was completed by the pairs (patients/respective family member). Interviews were made by phone at 30 and 90-days post-ICU discharge using the Impact of Event Scale (IES) and the HADS. Multivariate models were constructed to predict IES score at 30 days for patients and family members.

Results

Four hundred and seventy one family members and 289 patients were interviewed in the ICU forming 184 pairs for analysis. Regarding HADS score, patients presented less symptoms than family members of patients who survived and who deceased at 30 and 90-days (p<0.001). However, family members of patients who deceased scored higher anxiety and depression symptoms (p = 0.048) at 90-days when compared with family members of patients who survived. Patients and family members at 30-days had a similar IES score, but it was higher in family members at 90-days (p = 0.019). For both family members and patients, age and symptoms of anxiety and depression during ICU were the major determinants for PTSD at 30-days.

Conclusions

Anxiety, depression and PTSD symptoms were higher in family members than in the patients. Furthermore, these symptoms in family members persisted at 3 months, while they decreased in patients.     

Absence of linkage between Alzheimer's disease and the HLA system

The study of a family in which multiple cases of Alzheimer's disease occurred in several generations offers the opportunity to test the genetic transmission of this disease. The HLA grouping of the members of a pedigree containing 10 affected members allowed to demonstrate that the disease is not due to a single dominant gene linked to the major histocompatibility complex. Although a more complex involvement of the major histocompatibility complex cannot be totally ruled out it is obvious that a strong linkage does not exist between Alzheimer's disease and HLA.     

"Scleroderma linearis: hemiatrophia faciei progressiva (Parry-Romberg syndrom) without any changes in CNS and linear scleroderma "en coup de sabre" with CNS tumor

Background

Hemifacial atrophy (Parry-Romberg syndrome) is a relatively rare disease. The etiology of the disease is not clear. Some authors postulate its relation with limited scleroderma linearis. Linear scleroderma "en coup de sabre" is characterized by clinical presence of most commonly one-sided linear syndrome. In a number of patients, neurological affection is the medium of the disease. The treatment of both scleroderma varieties is similar to the treatment of limited systemic sclerosis.

Case presentation

We present two cases of a disease: a case of a 49-year-old woman with a typical image of hemifacial atrophy, without any changes of the nervous system and a case of a 33-year-old patient with an "en coup de sabre" scleroderma and with CNS tumor.

Conclusion

We described typical cases of a rare diseases, hemifacial atrophy and "en coup de sabre" scleroderma. In the patient diagnosed with Parry-Romberg syndrome, with Borrelia burgdoferi infection and with minor neurological symptoms, despite a four-year case history, there was a lack of proper diagnosis and treatment. In the second patient only skin changes without any neurological symptoms could be observed and only a precise neurological diagnosis revealed the presence of CNS tumor.     

Child sexual abuse--children and families referred to a treatment project and the effects of intervention.

The characteristics of a series of 274 families who were referred to a sexual abuse treatment programme were analysed. Information was obtained on 411 abused children and 362 non-abused children. Different forms of sexual abuse were noted, with 77% of girls and 23% of boys affected. Boys tended to be abused at a younger age, more severely, and for longer periods than girls. There was a predominance of lower social class groups among the parents, and a wide variety of family structures, with reasonable stability over time. Ninety six per cent of perpetrators were men, and biological and step-parents predominated. Contributing factors in both the family history and the current perpetrators and their wives included sexual abuse, violence, chaotic families, marital problems, sexual difficulties, alcoholism, and subnormality. Follow up of 120 families, 180 victims, and 226 siblings showed that prosecution occurred in 60% of cases, with a high percentage of perpetrators being imprisoned. Treatment was offered to 87% of families, but because the treatment programme was in the early stages of development a variable number of children and parents were offered family treatment or treatment in groups for parents and children separately. There was an improvement in the victim''s circumstances in 61% of cases, and a noticeable reduction in "sexualised" and general emotional difficulties among victims, but there was reabuse rate of 16%. Protection of children was achieved through changes of family attitude and changes in family structure including divorce and separation: 14% of victims were rehabilitated to both parents, 33% to mothers only, and 26% to new families or other residences. Consensus in the family that abuse had occurred was seen as an important factor in determining which children could be rehabilitated with both their parents, with their mothers only, or with new families; which families could be offered or accepted treatment; and whether positive changes in the family occurred.     

The use of association data to identify family members at high risk for marker-linked diseases.

The study of genetic markers linked and associated with disease has provided important evidence of a genetic contribution to numerous diseases and has helped to establish their modes of inheritance. However, this information has not been fully utilized in counseling individuals at risk for these disorders. In the case of recessive, marker-linked diseases, such as idiopathic hemochromatosis linked to HLA in family studies and associated with specific HLA alleles in population surveys, the only current clinical application has been to identify siblings who share both HLA-marker haplotypes with the affected proband. They are considered to be presymptomatically affected, and more definitive invasive investigations are considered appropriate. All other relatives, including parents, offspring, and other siblings, who share only one marker with the proband, have been counseled only that their risk is equivalent to the gene frequency of the disease allele, for example, 3%-6% for hemochromatosis. We have developed a generally applicable method to utilize population association data to derive more specific and accurate risk figures for these other relatives of patients with marker-linked and associated diseases. We have applied this method to idiopathic hemochromatosis. If the offspring of a patient with hemochromatosis lacks A3, B7, and B14, the risk to that offspring for developing hemochromatosis is less than 2%. On the other hand, if they receive HLA A3 from their unaffected parent, their risk climbs to 9%-10%; if they receive an A3-B14 haplotype, their risk increases to virtually 100%. As demonstrated by our example, the application of association data to family members already at a basal increased risk for marker-linked disease can significantly refine the disease risk estimates given to those relatives. This information can be utilized to select individuals in whom invasive diagnostic testing or preventative intervention is indicated.     

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region

Age at the onset of motor symptoms in Huntington disease (HD) is determined largely by the length of a CAG repeat expansion in HTT but is also influenced by other genetic factors. We tested whether common genetic variation near the mutation site is associated with differences in the distribution of expanded CAG alleles or age at the onset of motor symptoms. To define disease-associated single-nucleotide polymorphisms (SNPs), we compared 4p16.3 SNPs in HD subjects with population controls in a case:control strategy, which revealed that the strongest signals occurred at a great distance from the HD mutation as a result of "synthetic association" with SNP alleles that are of low frequency in population controls. Detailed analysis delineated a prominent ancestral haplotype that accounted for ～50% of HD chromosomes and extended to at least 938 kb on about half of these. Together, the seven most abundant haplotypes accounted for ～83% of HD chromosomes. Neither the extended shared haplotype nor the individual local HTT haplotypes were associated with altered CAG-repeat length distribution or residual age at the onset of motor symptoms, arguing against modification of these disease features by common cis-regulatory elements. Similarly, the 11 most frequent control haplotypes showed no trans-modifier effect on age at the onset of motor symptoms. Our results argue against common local regulatory variation as a factor influencing HD pathogenesis, suggesting that genetic modifiers be sought elsewhere in the genome. They also indicate that genome-wide association analysis with a small number of cases can be effective for regional localization of genetic defects, even when a founder effect accounts for only a fraction of the disorder.     

Incidence of poliomyelitis; the effect of tonsillectomy and other operations on the nose and throat

A statistical survey was made of all the cases of poliomyelitis occurring in all of Los Angeles County during the three years of 1949, 1950 and 1951 in an attempt to determine the effect of operations on the nose and throat on the incidence of poliomyelitis. Tonsillectomy and adenoidectomy were the only operations noted with any degree of frequency. Yet, in the total of 3,601 cases of poliomyelitis that occurred in this three-year period there were only 20 (0.55 per cent) in which the patient had had recent tonsillectomy and adenoidectomy. The incidence of this disease in patients who had had tonsillectomy and adenoidectomy was compared with the "expected" incidence as determined from the incidence in other patients, in the same age group. There was no significant difference between actual and expected incidence even during the summer months when most cases of poliomyelitis occurred. The same was true with regard to recently tonsillectomized patients in the epidemic months of July through October. In a separate survey of 675 patients with poliomyelitis, it was noted that only 30 per cent ever had had tonsillectomy or adenoidectomy. Inasmuch as it is estimated that one of every three persons in the general young population nowadays has had tonsillectomy and adenoidectomy, this figure is no more or less than could be expected.     

Detection of multiple colon and rectal tumors during diagnostic treatment and follow-up

Recognition of the commonly encountered colorectal cancer (CRC) generally begins and takes place because of and based on symptoms and signs, due to the unsettled screening of this type of cancer. Sometimes, because of advanced stage cancer urgent surgical intervention could become necessary and, if this is the case, there is no time and possibility for searching for an eventual second tumor and perhaps the patient's status does not permit performing intraoperative investigations either. The incidence of multiple colon cancer is considered to be between 2.5 and 30% according to the literature. That is why one should exclude them even in the absence of pre- and intraoperative investigations and complaints. On the other hand, colonoscopy and perhaps irrigoscopy of seemingly healthy followed-up patients is mandatory. In the case of the presence of complaints/symptoms denoting impaired intestinal passage seen in a followed-up patient or during the adjuvant setting or metastatic/recurrent disease, treatment and even during hospice care we should evaluate the possibility of a second metachronous tumor. Moreover, if there is no urgency, the multidisciplinary team (oncoteam) should recommend the adequate treatment by balancing gain/utility and risk.     

Fistules pulmonaires artério-veineuses

A case of multiple pulmonary arteriovenous fistulas is reported. Hereditary hemorrhagic telangiectasia is a characteristic associated finding, and in this instance affected 10 members of the patient''s family over four generations. This association suggests that the pulmonary condition in its congenital form is part of a generalized vascular dysplasia. Clinically, the patient experienced increased dyspnea and fatigue but cyanosis and polycythemia were not noted. After surgical excision of the fistula with conservation of as much pulmonary tissue as possible, prompt relief of symptoms was obtained. Furthermore, angiographic studies revealed that the small fistulas in the other lung did not enlarge. The presence of multiple fistulas is not a contraindication to surgery, and such fistulas should be excised to improve the patient''s condition and prevent further complications.