Follow-up in the field of reproductive medicine: an ethical exploration.

Research Question: What ethical implications, issues and concerns play a role in conducting follow-up studies of children born after assisted reproductive technologies (ART)?

Design: Literature study and relevant experiences of academic medical centres in Brussels, Belgium, and Maastricht, the Netherlands were used to identify and analyse the most pertinent ethical implications, issues and concerns.

Results: According to recommendations from the European Society of Human Reproduction and Embryology, follow-up (ideally long term) of children conceived through medically assisted reproduction (MAR) should be an integral part of introducing new ART. With potentially risky new ART on the horizon, these recommendations need to be taken more seriously.

Pulmonary Sarcoidosis.

A 34-year-old male teacher was referred to the hospital with a persisting dry cough and dyspnea on exercise since eight weeks. He had no fever, neither complaints of ear, nose or throat. There were no complaints during the night.

PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring.

Background: Mitochondrial disorders are often fatal multisystem disorders, partially caused by heteroplasmic mitochondrial DNA (mtDNA) point mutations. Prenatal diagnosis is generally not possible for these maternally inherited mutations because of extensive variation in mutation load among embryos and the inability to accurately predict the clinical expression. The aim of this study is to investigate if PGD could be a better alternative, by investigating the existence of a minimal mutation level below which the chance of an embryo being affected is acceptably low, irrespective of the mtDNA mutation.

Jeune syndrome: description of 13 cases and a proposal for follow-up protocol.

Jeune syndrome (asphyxiating thoracic dystrophy, ATD) is a rare autosomal recessive skeletal dysplasia characterized by a small, narrow chest and variable limb shortness with a considerable neonatal mortality as a result of respiratory distress. Renal, hepatic, pancreatic and ocular complications may occur later in life. We describe 13 cases with ages ranging from 9 months to 22 years.

Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A > G tRNA(Leu) mutation.

Background: The m.3243A>G mutation in the mitochondrial tRNA(Leu(UUR)) gene is an example of a mutation causing a very heterogeneous phenotype. It is the most frequent cause (80%) of the MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes), but it can also lead in addition or separately to type 2 diabetes, deafness, renal tubulopathy and/or cardiomyopathy.

Oesophageal dilatation on high-resolution computed tomography scan of the lungs as a sign of scleroderma.

Background: Systemic sclerosis (SSc) is a generalised autoimmune disease that causes morbidity and reduced life expectancy. Recently, evidence has been accumulating that immunosuppressive treatment in an early stage of the disease could improve survival, enhancing the need for early diagnosis and regular evaluation of organ involvement. Among others, a high-resolution computer tomography (HRCT) scan of the chest is performed for the assessment of pulmonary involvement in SSc.

Prophylactic G-CSF and antibiotics enable a significant dose-escalation of triplet-chemotherapy in non-small cell lung cancer.

In advanced non-small cell lung cancer (NSCLC) the clinical benefit of a platinum-based doublet is only modest, therefore, attenuated dosed three-drug combinations are investigated. We hypothesized that with adequate support a full dosed chemotherapy triplet is feasible. The study was designed as a dose finding study of paclitaxel in chemotherapy-naive patients.

Determining mucosal barrier injury to the oesophagus using CT scan.

Introduction: Oral mucositis is recognised as one of the most debilitating complications of high-dose cytostatic chemotherapy used to prepare for haematopoietic stem cell transplantation (HSCT), but very little is known about oesophageal mucositis, as endoscopy is not routinely performed.

Materials And Methods: We incorporate the computed tomography (CT) scan in the diagnostic workup of fever during neutropenia to detect evidence of pulmonary complications. This allowed us to evaluate whether mucosal barrier injury to the oesophagus can be determined.

Critical aneurysmal dilatation of the thoracic aorta in young adolescents with variant hyperimmunoglobulin E syndrome.

The autosomal-dominant (AD) form of the hyperimmunoglobulin E syndrome (HIES) has been described as a multisystem disorder including immune, skeletal and dental abnormalities. Recently, the evaluation of patients from families in which HIES was inherited in a manner more consistent with autosomal-recessive (AR) inheritance, showed that AR-HIES is a clinically distinct disease entity. In addition to classical immunologic findings of AD-HIES, the AR form presents with severe recurrent fungal and viral infections with herpes zoster, herpes simplex and characteristic mollusca contagiosa.

Early transient leg swelling at the side of renal transplant in two children.

Two children are described with a huge leg swelling shortly after renal transplantation. The swelling was located at the side of the renal transplant. The swelling was caused by the compression of the iliac vein by the renal transplant combined with perirenal fluid collection.

[Therapeutic dilemmas in patients with a centrally-located pulmonary embolism confirmed by spiral CT-scan but with no cardiogenic shock].

3 patients, 2 women aged 64 and 44 and 1 man aged 67, had severe dyspnoea and a large centrally-located pulmonary embolism (PE) without any accompanying arterial hypotension. They were all given conventional anticoagulation therapy, although thrombolytic therapy was also considered. The women recovered but the man eventually died of a second massive embolism.

[Pneumatosis intestinalis in 9 children with an oncologic disease].

Objective: To acquire knowledge regarding the rare condition pneumatosis intestinalis (PI) in children treated for malignant disease.

Design: Retrospective.

Method: In 1998-1999 PI was diagnosed in 9 of the 140 children with malignant disease in the department of Paediatric Oncology of the UMC St Radboud, Nijmegen, the Netherlands.

[Improved diagnostics in invasive aspergillosis and systematic monitoring in patients at high risk of infection].

Invasive aspergillosis remains an important cause of morbidity and mortality in patients with prolonged and severe immune suppression such as following haematopoietic stem-cell transplantation. Consensus definitions, which allow categorisation of patients based on diagnostic criteria, are an important improvement in uniform registration of invasive mycoses in clinical trials. Prospective monitoring of high-risk patients for the circulating aspergillus cell-wall component galactomannan, results in earlier diagnosis in two-thirds of patients when compared with conventional diagnostic methods.

ESHRE PGD Consortium data collection IV: May-December 2001.

The ESHRE PGD Consortium was formed in 1997 to survey the practice of preimplantation genetic diagnosis (PGD). Since then, three reports have been published giving an overview on PGD from an ever-increasing number of centres and reporting on an increasing number of PGD cycles and pregnancies and babies born after PGD. After these initial influential publications, important shortcomings were identified primarily on the method of data collection, i.

The use of X-ray for lymph node determination in the axillary dissection specimen.

A new and simple method by X-ray is described for lymph node determination in the axillary specimen of breast cancer patients. X-rays were performed of the axillary specimens of 49 women with breast cancer. The number of lymph nodes visible on the X-rays were assessed by two radiologists (A and B).

Current imaging concepts in pediatric osteomyelitis.

The diagnosis of osteomyelitis remains a difficult diagnostic dilemma. In this article, which is particularly aimed at those whose practice does not include a large paediatric population, we review the pathophysiology of paediatric osteomyelitis and contrast it with the available imaging modalities. We examine the role of the radiologist as well as the usefulness of each modality.

[Haemangiomas and congenital vascular malformations: their classification and diagnosis].

Mulliken and Glowacki's classification of peripheral blood- and lymph-vessel abnormalities is based on their clinical course and cellular characteristics, and is therefore clear to and readily usable by the practising physician. In order to make the diagnostic process more accessible, the Haemangiomas and Congenital Vascular Malformations Nijmegen working group has developed a system of diagnostic guidelines on the basis of this classification. The anamnesis should be directed at the following six distinguishing characteristics: presence of the anomaly at birth, growth, involution, change in volume, pain and outflow.

Testicular simple cyst and teratoma: asynchronous bilateral occurrence within the first year of life.

Benign and malignant testicular tumors are rare in infancy. Moreover, only a few cases of bilateral testicular tumors in children have been reported to date. To our knowledge, we report the first case of an asynchronous bilateral simple testicular cyst and testicular teratoma in an infant.

Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM).

In patients with myotonic dystrophy (DM), the severity of clinical signs is correlated with the length of a (CTG)n trinucleotide repeat sequence. This sequence tends to expand in subsequent generations. In order to examine the kinetics of this process and, in particular, the influence of the mutant-allele size and the sex of the transmitting parent, we have studied (CTG)n repeat lengths in the offspring of 38 healthy carriers with small mutations (less than 100 CTG trinucleotides, mean length [CTG]67).