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1.
For premenopausal patients with receptor-positive early breast cancer, administration of tamoxifen for 5 years constitutes the main adjuvant endocrine therapy. During pregnancy, tamoxifen and its metabolites interact with rapidly growing and developing embryonic or fetal tissues. Information about tamoxifen and pregnancy was gathered by searching PubMed. In addition, we had access to the records of the pharmaceutical company AstraZeneca. Because these observations are retrospective and other therapies and diagnostic measures are possible confounders, a causal relationship was not established between tamoxifen treatment and pregnancy outcome. The records from AstraZeneca documented three live births with congenital anomalies and four live births without congenital anomalies related to tamoxifen treatment before pregnancy. Tamoxifen therapy during pregnancy resulted in 16 live births with congenital malformations and a total of 122 live births without malformations. The 122 live births without malformations included 85 patients from a prevention trial that did not record a single anomaly, whereas the AstraZeneca Safety Database alone reported 11 babies with congenital malformations of 44 live births. Additionally, there were: 12 spontaneous abortions, 17 terminations of pregnancy without known fetal defects, six terminations of pregnancy with fetal defects, one stillbirth without fetal defects, two stillbirths with fetal defects, and 57 unknown outcomes. The relatively high frequency of severe congenital abnormalities indicates that reliable birth control during tamoxifen treatment is mandatory. After tamoxifen use, a washout period of 2 months is advisable based on the known half-life of tamoxifen. In case of an inadvertent pregnancy, risks and options should be discussed.  相似文献   

2.
First branchial cleft anomalies are a very rare entities accounting for less than 1 % of all branchial cleft malformations. They are often misdiagnosed for other cystic lesions occurring in parotid gland and inadequately treated (incision and drainage or incomplete excision) leading to multiple recurrences. We report a series of four patients who were previously operated (incision and drainage) for misdiagnosed first branchial cleft anomalies with subsequent recurrences. All patients underwent superficial parotidectomy with complete tract excision using facial nerve monitoring to prevent iatrogenic injury because of extensive fibrosis. We discuss the literature pertaining to first branchial cleft anomalies, their varied presentations and their relationship to facial nerve in parotid gland and importance of facial nerve monitoring in revision surgery.  相似文献   

3.
The perinatal autopsy is frequently viewed by pathologists as being scientifically unrewarding and contributing little to patient care. To emphasize its importance in patient management, genetic counselling and specific research, a ten-year review (1979-88) was made of the perinatal autopsy experience at Loyola University Medical Center. The 657 deaths included late fetal deaths (22%), early neonatal deaths (51%), late neonatal deaths (10%) and deaths between 29 days and one year (17%). Comparison of the principal causes of death in various groups categorized by birth weight and age revealed significant trends. There has been a steady decline in mortality from immediate complications of immaturity, while the mortality rate from long-term complications of immaturity has not increased. There were increased frequencies of congenital diaphragmatic hernia and cardiac malformations, while the frequency of renal malformations decreased; the etiological significance of these changes requires further evaluation. A correlation of clinical observations with post-mortem findings indicates that newer diagnostic procedures, such as ultrasound, echocardiography and cardiac catheterization, are of limited value for accurate diagnosis of complex anomalies, cystic renal disease and chromosomal anomalies. A substudy included cases up to 18 years of age. The frequency of childhood neoplasia was low (17 cases), and among these cases there was a predominance of haematological malignancies (11 cases). Even with these small numbers, a shift in cause of death from disseminated malignancy to overwhelming infection was apparent. This paper includes the essential elements of a protocol for perinatal autopsies, with illustrations of specific applications. The perinatal autopsy is clearly an undervalued source of information and discovery. Little or no information is available from developing countries, where autopsies could provide information on causes of paediatric mortality and permit recognition of disease patterns, which is so critical to the planning of health services.  相似文献   

4.
Vascular anomalies encompass a broad spectrum of tumours and malformations as classified by the International Society for the Study of Vascular Anomalies. Despite being one of the most common congenital abnormalities, they are often misunderstood in clinical practice: use of the term 'haemangioma' to denote any vascular anomaly still occurs. They are found frequently in the head and neck, often as complex lesions that require multidisciplinary management which necessitates an accurate diagnosis. Precise radiological assessment is therefore crucial. This pictorial review will briefly discuss the current classification system of vascular anomalies and the optimal radiological tools for their evaluation.  相似文献   

5.
Some of the congenital anomalies of the nose give a preternatural and demoniacal look to to the baby apart from the functional disabilities that are quite often concomitant. Besides, the child develops serious psychological problems due to the deformity. An early correction is mandatory for cosmetic improvement and functional rehabilitation. Five rare malformations are reported.  相似文献   

6.
Cancer syndromes are characteristic associations of specific malignancies with various congenital anomalies. In addition to such diseases, an increased prevalence in general of chromosomal instability, malformations, immunodeficiencies, altered growth and development, and reproductive loss has been observed in both childhood leukemias and solid tumors. The overlap among these congenital disorders suggests their common prenatal, possibly genetic origin and thus the existence of a nonspecific genetic instability leading to various clinical manifestations of disturbancies in cell division. Seeking for related features in family members of a patient with malignancy may be of clinical value in detecting predisposition to cancer. Hungarian Science Foundation (OTKA T-032027) and Hungarian Ministry of Health (ETT 332/2003).  相似文献   

7.
The authors record a case of congenital hemihypertrophy in a woman of 24 years. Diagnosis is usually made earlier in infancy or childhood. The principal features of this curious malformation are described. Associated malformations are common. In the present case, a particular malformation is stressed, namely an abnormality of the aortic arch with a right-sided aorta and low implantation of the left subclavian artery which arose from an aortic diverticulum. Another interesting point is the presence of anomalies of the extremities, brachydactyly, and syndactyly. Cutaneous and ocular anomalies are more common and the condition appears to be related to phacomatosis. The different theories of the pathogenesis of the condition are discussed.  相似文献   

8.
Branchio-oto-renal syndrome (Melnick-Fraser Syndrome) is a rare Autosomal Dominant disorder characterized by the syndromic association of branchial cysts or fistulae along with external, middle & inner malformations and renal anomalies. Incomplete penetrance and variable expressivity are common with the phenotypic variation ranging from mild to severe forms & consisting of various eye, ear, oral and craniofacial abnormalities. Mutations in the EYA1 gene on chromosomal site 8q13.3 are identified as the primary cause of BOR syndrome. We present a 3year old child with BOR syndrome, who came to us with bilateral low set, malformed ears & profound cochlear hearing loss along with bilateral branchial fistulae & unilateral renal agenesis. This child underwent successful cochlear implantation recently. The clinical presentation, pre-operative investigations, intra-operative findings & post-op habilitation status are presented with special highlights on the unique facial nerve course along with middle and inner ear anomalies which posed a surgical challenge during cochlear implantation.  相似文献   

9.
The uterus is well visualized with sonography with the definition of its morphofunctional characteristics and the physiologic variations in relation to hormonal stimuli. With high frequency endovaginal and intrarectal probes, anatomical details are optimal. Color Doppler enables the study of blood flow in the pelvic vessels and supplies functional information. Hysterosalpingography is the most accurate method for the study of the uterine cavity and the evaluation of tubal patency. In the study of uterine malformations, sonography represents the procedure of first choice, able to diagnose anomalies of fusion and development of müllerian ducts. In cases of dubious or ascertained malformations, hysterosalpingography is mandatory to complete the sonographic findings.  相似文献   

10.
Radiotherapy plays a major role in the treatment of cervical cancer. A successful radiotherapy program integrates both external beam and brachytherapy components. The principles of radiotherapy are strongly based on the anatomy of the organ and patterns of local and nodal spread. However, in patients with distorted anatomy, several practical issues arise in the delivery of optimal radiotherapy, especially with brachytherapy. Müllerian duct anomalies result in congenital malformations of the female genital tract. Though being very commonly studied for their deleterious effects on fertility and pregnancy, they have not been recognized for their potential to interfere with the delivery of radiotherapy among patients with cervical cancer. Here, we discuss the management of cervical cancer among patients with Mül erian duct anomalies and review the very sparse amount of published literature on this topic.  相似文献   

11.
The clinical features, imaging and angiographic findings of thirty four patients with cranial dural arteriovenous malformations and fistulae are presented in four groups. Group 1 – Seven patients with anterior cavernous malformations, predominant superior ophthalmic vein drainage, and symptoms and signs of carotico-cavernous fistula. Group 2 – Twelve patients with malformations of the superior petrosal, transverse and sigmoid sinus regions, presenting predominantly with bruit. Group 3 – Seven patients with malformations of the basal sinuses and prominent cortical venous drainage, presenting with intracranial haemorrhage, headache and impaired cortical function. Intracranial haemorrhage never occured in the absence of cortical venous drainage. Group 4 – Eight patients with infrequent manifestations. Group 1 and 2 patients are readily recognized and diagnosed. Group 3 and 4 patients are often misdiagnosed. Treatment modalities comprised embolisation therapy, surgical excision, and carotid compression. Twenty patients were treated by one or more of these modalities with a successful outcome in thirteen patients. Group 1 patients are the most amenable to trans-arterial embolisation. Carotid compression as the sole modality of treatment was successful in four patients. Unless the fistula is successfully closed, Group 3 patients and patients who present with cervical or thoracic myelopathy carry a grave prognosis. There is need for greater radiologist awareness of Group 3 and the rarer presentations, particularly myelopathy. With the exception of one patient, the morphological features of our cases are consistent with the now-accepted view that these lesions are acquired arterio-venous fistulae and not congential malformations.  相似文献   

12.
To see the radiological anatomy of inner ear malformations in hearing impaired children. This study was a prospective observational study done at a tertiary care teaching hospital in north India. The included were children of 1–7 years with first time detected severe to profound SNHL. The evaluation of hearing was done by brainstem evoked response audiometry. Those with history of chronic suppurative otitis media and conductive hearing loss were excluded. The all included were undergone high resolution computed tomography of the tympano-mastoid region. A written informed consent was taken. The institutional ethics committee approved the study protocol. We screened 130 children of 1–7 years of age with complaints of severe to profound hearing impairment (SNHL) by BERA. We excluded 38 and 14 children who had conductive hearing loss with or without CSOM and did not give consent, respectively. Among recruited 78 children, 47 (60.3%) had severe (71–90 dB) and 31 (39.7%) had profound (> 90 dB) SNHL. The majority of children (60/78, 76.9%) had a bilateral hearing impairment, only 18 (23.1%) had unilateral hearing impairment. The mean ± SD of age was 3.9 ± 1.3 years (95% CI = 3.6–4.2). The incidence of severe to profound SNHL was higher, though not statistically significant among the girls. Only 7.7% children with severe to profound SNHL were detected within first 2 years of life. Most of the children (92.3%) with severe to profound SNHL were detected after 2 years of age. Among 78 with severe to profound SNHL, 16 (20.5%) children had structural anomalies in their internal ears. Only 2 (6.9%) ears had single anomaly, others (27, 93.1%) had multiple anomalies. A maximum number of anomalies found in one ear were 5. The most common anomalies were found in the vestibule. The total number of anomalies were 115. Five children (6.4%) with severe to profound SNHL had craniofacial dysmorphism. Approximately 20% of children with severe to profound SNHL have congenital anomalies in their internal ears. It is crucial to know these anomalies before planning of CI. HRCT of tympano-mastoid is the first modality to know these anomalies. MRI should also be included to know the details of vestibulocochlear nerve. Since, the neurocognitive outcome would be the best if CI will be done as early as possible preferably around 1 year of age. Therefore, children must be screened at the appropriate age, firstly by OAE followed by BERA.  相似文献   

13.
Neuroblastoma (NB), an embryonic tumour arising from neural crest cells, is the most common malignancy among infants. The aetiology of NB is largely unknown. We conducted a pooled analysis to explore whether there is an association between NB and preconception and perinatal factors using data from two French national population‐based case‐control studies. The mothers of 357 NB cases and 1783 controls younger than 6 years, frequency‐matched by age and gender, responded to a telephone interview that focused on demographic, socioeconomic and perinatal characteristics, childhood environment, life‐style and maternal reproductive history. Unconditional logistic regression was used to estimate pooled odds ratios and 95% confidence intervals. After controlling for matching variables, study of origin and potential confounders, being born either small (OR 1.4 95% CI 1.0‐2.0) or large (OR 1.5 95% CI 1.1–2.2) for gestational age and, among children younger than 18 months, having congenital malformations (OR 3.6 95% CI 1.3–8.9), were significantly associated with NB. Inverse associations were observed with breastfeeding (OR 0.7 95% CI 0.5–1.0) and maternal use of any supplements containing folic acid, vitamins or minerals (OR 0.5 95% CI 0.3–0.9) during the preconception period. Our findings reinforce the hypothesis that fetal growth anomalies and congenital malformations may be associated with an increased risk of NB. Further investigations are needed in order to clarify the role of folic acid supplementation and breastfeeding, given their potential importance in NB prevention.  相似文献   

14.
Lymphangiomas are rare benign, hamartomatous, congenital malformations of the lymphatic system involving the skin and subcutaneous tissues of head, neck and oral cavity. Occasional adult onset cases occur, this condition is thought to be a developmental malformation of lymph vessels which have poor communication with normal lymph system. Most of these malformations are present at birth or appear within two years of life. 75 % of cases occur in head and neck area, submandibular and parotid being the most affected parts. Lymphangioma arising in nasopharynx and in an adult has not been reported in english literature. This prompted us to report the very first case of Lymphangioma Nasopharynx.  相似文献   

15.
Familial cerebral cavernous malformations are autosomal dominant conditions that can result in significant morbidity. A two‐hit mechanism is accepted as likely responsible for formation of these malformations. We present two patients with this disease who received therapeutic radiation and developed very high numbers of malformations within the radiation ports, supporting radiation as an accelerator of lesion formation and suggesting implications for risks of radiation in this disease.  相似文献   

16.
The association of cerebral arteriovenous malformations and intracranial aneurysms has been well documented. Among these are a subset of giant aneurysms in association with arteriovenous malformations which are relatively rare. We present a case report and a brief review of the literature regarding this entity.  相似文献   

17.
Two patients with caecal arteri-ovenous malformations causing intermittent blood loss leading to iron deficiency anaemia are reported. An awareness of this condition (also known as haemangioma and caecal angiodysplasia) as a cause of lower intestinal bleeding and greater use of selective visceral arteriography has led to increased detection of these lesions (Bentley, 1976). Caecal arterio-venous malformations are seen mostly in the elderly and there is increased incidence of these lesions in patients with aortic stenosis.  相似文献   

18.
IntroductionIn 9–17% of Wilms tumour patients a predisposing syndrome is present, in particular WT1-associated syndromes and overgrowth syndromes. Constitutional WT1 mutations or epigenetic changes on chromosome 11p15 have also been described in Wilms tumour patients without phenotypic abnormalities. Thus, the absence of phenotypic abnormalities does not exclude the presence of a genetic predisposition, suggesting that more Wilms tumour patients may have a constitutional abnormality. Therefore, we investigated the frequency of constitutional aberrations in combination with phenotype.Patients & methodsClinical genetic assessment, as well as molecular analysis of WT1 and locus 11p15 was offered to a single-centre cohort of 109 childhood Wilms tumour patients.ResultsTwelve patients (11%) had a WT1 aberration and eight patients (8%) had an 11p15 aberration. Of the 12 patients with a WT1 aberration, four had WAGR syndrome (Wilms tumor, aniridia, genitourinary malformations and mental retardation), one had Denys-Drash syndrome, four had genitourinary anomalies without other syndromic features and three had bilateral disease with stromal-predominant histology at young age without congenital anomalies. Of the eight patients with an 11p15 aberration, four had Beckwith–Wiedemann syndrome (BWS), two had minor features of BWS and two had no stigmata of BWS or hemihypertrophy.ConclusionConstitutional WT1 or 11p15 aberrations are frequent in Wilms tumour patients and careful clinical assessment can identify the majority of these patients. Therefore, we would recommend offering clinical genetic counselling to all Wilms tumour patients, as well as molecular analysis to patients with clinical signs of a syndrome or with features that may indicate a constitutional WT1 or 11p15 aberration.  相似文献   

19.
Brachmann-De Lange Syndrome (BDLS, MIM 122470) is a rare multiple congenital anomaly/mental retardation syndrome characterized by a variable phenotype including intrauterine fetal growth retardation, limb reduction and distinctive facial and skull features (low frontal hairline, synophrys, anteverted nostrils, long philtrum, downturned corners of the mouth, micro- and retrognathia, low-set ears and micro-/brachycephaly), as well as a significant psychological developmental delay. A proposed classification system for BDLS include a classic type with characteristic facial and skull changes, a mild type where similar changes may develop with time or may be partially expressed, and a third type including phenocopies, where phenotypic changes are casually related to chromosomal aneuploidies or teratogenic exposures. We report on a 22-week gestation fetus with BDLS, showing intrauterine fetal growth retardation, brachycephaly, micro-/retrognathia and monolateral single bone of the forearm, in a woman harboring diffuse large B-cell lymphoma. Meticulous family history was negative for malformations, syndromes, congenital anomalies or psychiatric disorders. There are very few reports of BDLS at early gestation, but to the best of our knowledge, this is the first case occurring simultaneously with a hematological neoplastic disease of the mother.  相似文献   

20.
Radiologic investigations have proved useful in the evaluation of 26 patients with peripheral arteriovenous malformations which are classified as: hemangioma, congenital arteriovenous fistula and venous malformation. Plain film findings of a soft-tissue mass are common in most patients except in the congenital arteriovenous fistula. Calcification in soft-tissue is noted mostly in hemangiomas and venous malformations. The angiographic findings are characteristic. Hemangiomas reveal slightly dilated small vessels arranged in a fine plexiform network, associated with small collections of contrast. Dilated veins, varicosities or clusters of rounded collections of contrast are seen. Congenital arteriovenous malformations show dilated feeding arteries, rapid arteriovenous shunting and dilated draining veins. Venous malformations have normal arteriograms. Venous stenosis with enlarged veins is seen in phleban-giomas; saccular dilatation of veins is noted in venous angiomas or phlebangiomatosis. Characteristic findings of the venous phase of arteriograms and phlebograms are very helpful in differentiating hemangiomas from soft tissue neoplasm.  相似文献   

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