Supportive therapy and complementary medicine in renal cell carcinoma.

PURPOSE: As part of the German interdisciplinary S3-guideline "Diagnosis, Treatment and Followup of Renal Cell Carcinoma", this article aimes to provide guidance regarding the use of supportive therapy and complementary medicine in patients with advanced or metastatic renal cell carcinoma. METHODS: The German interdisciplinary S3-guidelines are national clinical practice guidelines that implement the highest methodological quality of evidence-based medicine. Recommendations and evidence-based statements are provided according to available evidence. RESULTS: Supportive and palliative care are important areas of tumor treatment and require knowledge on the management of a variety of issues. This article outlines the management of tumor-related symptoms such as pain, undesired treatment-related effects, palliative care and end-of-life care in patients with renal cell carcinoma. CONCLUSION: Patients with advanced or metastatic renal cell carcinoma should have access to supportive and palliative care according to their individual needs. There is very limited evidence regarding the impact of complementary medicine for the treatment of patients with renal cell carcinoma.

PPARß/δ directs the therapeutic potential of mesenchymal stem cells in arthritis.

OBJECTIVES: To define how peroxisome proliferator-activated receptor (PPAR) ß/δ expression level in mesenchymal stem cells (MSCs) could predict and direct both their immunosuppressive and therapeutic properties. PPARß/δ interacts with factors such as nuclear factor-kappa B (NF-κB) and regulates the expression of molecules including vascular cell adhesion molecule (VCAM)-1 and intercellular adhesion molecule (ICAM)-1. Since these molecules are critical for MSC function, we investigated the role of PPARß/δ on MSC immunosuppressive properties. METHODS: We either treated human MSCs (hMSCs) with the irreversible PPARß/δ antagonist (GSK3787) or derived MSCs from mice deficient for PPARß/δ (PPARß/δ-/- MSCs). We used the collagen-induced arthritis (CIA) as model of immune-mediated disorder and the MSC-immune cell coculture assays. RESULTS: Modulation of PPARß/δ expression in hMSCs either using GSK3787 or hMSCs from different origin reveals that MSC immunosuppressive potential is inversely correlated with Ppard expression. This was consistent with the higher capacity of PPARß/δ-/- MSCs to inhibit both the proliferation of T lymphocytes, in vitro, and arthritic development and progression in CIA compared with PPARß/δ+/+ MSCs. When primed with proinflammatory cytokines to exhibit an immunoregulatory phenotype, PPARß/δ-/- MSCs expressed a higher level of mediators of MSC immunosuppression including VCAM-1, ICAM-1 and nitric oxide (NO) than PPARß/δ+/+ MSCs. The enhanced NO2 production by PPARß/δ-/- MSCs was due to the increased retention of NF-κB p65 subunit on the κB elements of the inducible nitric oxide synthase promoter resulting from PPARß/δ silencing. CONCLUSIONS: Our study is the first to show that the inhibition or knockdown of PPARß/δ in MSCs primes their immunoregulatory functions. Thus, the regulation of PPARß/δ expression provides a new strategy to generate therapeutic MSCs with a stable regulatory phenotype.

ASSOCIATED ANOMALIES IN CASES WITH LIMB REDUCTION DEFICIENCIES.

Infants with limb reduction deficiencies (LRD) often have other associated congenital anomalies. The purpose of this investigation was to assess the prevalence and the types of associated anomalies in a defined population. The associated anomalies in infants with LRD were collected in all livebirths, stillbirths and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population-based registry of congenital malformations. Of the 317 infants bom with LRD during this period, representing a prevalence of 8.2 per 10,000, 59.9% had associated anomalies. There were 27 (8.5%) cases with chromosomal abnormalities including 17 trisomies 18, and 73 (23.0%) nonchromosomal recognized dysmorphic conditions including 19 VA(C)TER(L) association and 15 Poland syndrome. However, numerous other recognized dysmorphic conditions were registered. Ninety (28.4%) of the cases had multiple congenital anomalies (MCA). Anomalies in the musculoskeletal, the cardiac, the urogenital, and the central nervous system were the most common other anomalies. This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for anomalies was continued until 2 years of age. Therefore the overall prevalence of associated anomalies, which was more than one in two infants, emphasizes the need for a thorough investigation of infants with LRD. A routine screening for other anomalies especially in the musculoskeletal system, the cardiovascular system, the urogenital system, the central nervous system, and the digestive system may be considered in infants and in fetuses with LRD.

ASSOCIATED NON DIAPHRAGMATIC ANOMALIES AMONG CASES WITH CONGENITAL DIAPHRAGMATIC HERNIA.

Cases with congenital diaphragmatic hernia (CDH) often have other associated anomalies. The purpose of this investigation was to assess the prevalence and the types of associated anomalies in CDH in a defined population. The anomalies associated with CDH were collected in all live births, stillbirths and terminations of pregnancy during 29 years in 386,088 consecutive pregnancies of known outcome in the area covered by our population based registry of congenital anomalies. Of the 139 cases with CDH born during this period (total prevalence of 3.60 per 10,000), 85 (61.2%) had associated major anomalies. There were 25 (18.0%) cases with chromosomal abnormalities including 12 trisomies 18, and 24 (17.3%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but Fryns syndrome. However, other recognized dysmorphic conditions were registered including fetal alcohol syndrome, de Lange syndrome, sequences (laterality sequence and ectopia cordis), and complexes (limb body wall complex). Thirty six (25.9%) of the cases had non syndromic multiple congenital anomalies (MCA). Anomalies of the cardiovascular system (n = 53, 27.5%), the urogenital system (n = 34, 17.6%), the musculoskeletal system (n = 29, 15.0%), and the central nervous system (n = 19, 9.8%) were the most common other congenital anomalies. We observed specific patterns of anomalies associated with CDH which emphasizes the need to evaluate all patients with CDH for possible associated malformations. In conclusion the overall prevalence of associated anomalies, which was close to two in three infants, emphasizes the need for a thorough investigation of cases with CDH. A routine screening for other anomalies may be considered in infants and in fetuses with CDH. One should be aware that the anomalies associated with CDH can be classified into a recognizable anomaly, syndrome or pattern in more than one out of two cases with CDH.

Counseling cancer patients on complementary and alternative medicine. Background, theory, and implementation of nationwide counseling facilities.

BACKGROUND AND PURPOSE: Complementary and alternative medicine (CAM) is of high relevance in oncology. Only a minority of professionals feel competent in CAM. Our aim was to provide a strategy for establishing evidence-based counseling on CAM in oncology in the German health system. METHODS: We performed a systematic search of the literature on patient counseling concerning CAM. Of 811 articles identified in this search 51 met our inclusion criteria. Data from these articles were analyzed and adapted to the needs of German patients by a group of experts of the DEGRO ("Deutschen Gesellschaft für Radioonkologie") and the German Cancer Society. In the next step a strategy about how to integrate evidence-based counseling on CAM at cancer centers and oncological institutions was developed. RESULTS: First, evidence-based recommendations on CAM counseling were derived. The core of our strategy combines two levels of information provision: level 1 will be oncologists, radiotherapists and other specialists and level 2 oncological CAM experts. The latter group will serve as trainers and backup for complicated or advanced questions and for individual counseling of patients with complex needs. Professionals in level 1 will be offered special training. CONCLUSION: Evidence-based counseling on CAM is not only possible but also mandatory in order to meet patient information needs. Our proposal would allow for integrated counseling available at all oncological institutions and guarantee a high quality. Furthermore, provision of information on two different levels allows the effective use of resources (manpower and financing).

Associated malformations among infants with radial ray deficiency.

Infants with radial ray deficiencies very often have other associated congenital anomalies. The reported frequency and types of associated malformations vary between different studies. The purpose of this investigation was to assess the frequency and types of associated malformations among infants with radial ray deficiencies in a geographically well-defined population from 1979 to 2004 of 346,831 consecutive births. Of the 73 infants with radial ray deficiencies born during this period (prevalence at birth of 2.1 per 10,000), 75% had associated malformations. Infants with associated malformation were divided into recognizable conditions (16 (22%) infants with chromosomal and 20 (27%) with non chromosomal conditions), and non recognizable conditions (19 (26%) infants with multiple malformations). Trisomies 18 and autosomal deletions were the most frequent chromosomal abnormalities. VACTERL association, thrombocytopenia absent radii syndrome, Fanconi anemia and Holt-Oram syndrome were most often present in recognizable non chromosomal conditions. Malformations in the musculoskeletal, cardiovascular and urogenital systems were the most common other anomalies in infants with multiple malformations and non recognizable conditions. The frequency of associated malformations in infants with radial ray deficiencies emphasizes the need for a thorough investigation of these infants. Routine screening for other malformations especially musculoskeletal, cardiac and urogenital systems anomalies may need to be considered in infants with radial ray deficiencies, and referral of these infants for genetic evaluation and counseling seems warranted.

A gene for achondroplasia-hypochondroplasia maps to chromosome 4p.

Achondroplasia (ACH) is a frequent condition of unknown origin characterized by short-limbed dwarfism and macrocephaly. Milder forms, termed hypochondroplasias (HCH) result in short stature with radiological features similar to those observed in ACH. We report on the mapping of a gene causing ACH/HCH to human chromosome 4p16.3, by linkage to the iduronidase A (IDUA) locus, in 15 informative families (Z max = 3.01 at theta = 0 for ACH; Z max = 4.71 at theta = 0 for ACH/HCH). Multipoint linkage analysis provides evidence for mapping the disease locus telomeric to D4S412 (location score in log 10 = 4.60). Moreover, this study supports the view that ACH and HCH are genetically homogeneous in our series.

Resilience in cancer patients and how it correlates with demographics, psychological factors, and lifestyle.

BACKGROUND: Being diagnosed with cancer is challenging. Many patients wish to be actively involved in treatment and contribute to therapy, but the patients' coping abilities and desire for involvement differ. The individual level of resilience seems to play a major role. Our study aims to learn more about the associations of resilience and factors as demographics and psychological factors. METHODS: This multicentric cross-sectional study was conducted in ten oncological centers in Germany in summer 2021. The questionnaire collected information on demographics, resilience, self-efficacy, general satisfaction with life, and sense of coherence. Considered lifestyle-aspects were diet and physical activity. 416 patients were included in the analyses. RESULTS: A moderate mean resilience score was achieved (M = 69). Significant correlations in demographics were found for resilience and education (r = 0.146, p = 0.003), income (r = 0.205, p = 0.001), and time since receiving diagnosis (r = - 0.115, p = 0.021). Resilience and self-efficacy correlated on a high level (r = 0.595, p < 0.001), resilience and sense of coherence, and resilience and general satisfaction with life in a moderate way (r = 0.339, p < 0.001; r = 0.461, p = 0.001). CONCLUSIONS: Resilience portrays an important aspect in cancer treatment. Detecting patients at risk, stabilizing, or improving resilience are important to focus on and strengthen them accordingly. Possible negatively influencing factors (e.g., low self-efficacy) need to be considered. Factors affecting resilience but difficult to influence, as educational background, should be screened for. Also, the combination of low resilience and low income seems to describe a vulnerable patient group.

Introducing a standardized assessment of patients' interest in and usage of CAM in routine cancer care: chances and risks from patients' and physicians' point of view.

BACKGROUND: Cancer patients often use complementary and alternative medicine (CAM), however, standardized assessment in clinical routine is missing. The aim of this study was to evaluate a screening questionnaire on CAM usage that was published in the S3 Guideline Complementary Medicine in the Treatment of Oncological Patients. METHODS: We developed a survey questionnaire to assess the practicability of the guideline questionnaire and communication on CAM between health care providers (HCPs) and patients. We collected 258 guideline questionnaires and 116 survey questionnaires from ten clinics and held twelve semi-structured interviews with HCPs. RESULTS: 85% used at least one of the listed CAM methods, 54 participants (N = 77) never disclosed usage to a physician. The most frequently used CAM methods were physical activity (76.4%) and vitamin D (46.4%). 25.2% used at least one method, that was labeled risky by the guideline. 53.4% did not know of CAM's risk of interactions and side effects. Introducing the guideline questionnaire in routine cancer care increased the rate of patients talking to an HCP regarding CAM significantly from 35.5 to 87.3%. The HCPs stated positive effects as an initiation of conversation, increased safety within CAM usage and patients feeling thankful and taken seriously. However, due to the limited amount of time available for discussions on CAM, generalized distribution to all patients was not feasible. CONCLUSION: Institutions should focus on implementing standard procedures and resources that help HCPs discuss CAM on a regular basis. HCPs should meet the patient's demands for CAM counseling and make sure they are equipped professionally.

Sense of coherence and its context with demographics, psychological aspects, lifestyle, complementary and alternative medicine and lay aetiology.

PURPOSE: For patients with a cancer diagnosis, coping abilities are of high importance. Cancer patients with a high sense of coherence may cope better. The purpose of this study is to learn more about the correlation of sense of coherence and different aspects, such as demographics, psychological factors, lifestyle, complementary and alternative medicine (CAM) and lay aetiology. METHODS: A prospective cross-sectional study was performed in ten cancer centres in Germany. The questionnaire consisted of ten sub-items, collecting information about sense of coherence, demographics, general life satisfaction, resilience, spirituality, self-efficacy, physical activity and sports, nutrition, CAM methods and cancer causes. RESULTS: As many as 349 participants were evaluable. The mean sense of coherence score was M = 47.30. Significant associations were shown for sense of coherence and financial situation (r = 0.230, p < 0.001), level of education (r = 0.187, p < 0.001), marital status (η = 0.177, p = 0.026) and time interval since diagnosis (r = - 0.109, p = 0.045). Sense of coherence and resilience correlated on a high level, as well as spirituality, self-efficacy and general life satisfaction (r = 0.563, r = 0.432, r = 0.461, r = 0.306, p's < 0.001). CONCLUSION: Several aspects, such as demographics and psychological factors, have a great influence on the sense of coherence. To help patients to cope better, physicians should try to strengthen sense of coherence, resilience and self-efficacy and, at the same time, consider patients' individual background such as level of education, financial capacity and emotional support by family members.

FOLFIRI plus cetuximab versus FOLFIRI plus bevacizumab as first-line treatment for patients with metastatic colorectal cancer-subgroup analysis of patients with KRAS: mutated tumours in the randomised German AIO study KRK-0306.

BACKGROUND: The AIO KRK-0306 trial compares the efficacy of infusional 5-fluorouracil, folinic acid, irinotecan (FOLFIRI) plus cetuximab with FOLFIRI plus bevacizumab in first-line treatment of metastatic colorectal cancer (mCRC). In October 2008, an amendment terminated the inclusion of patients with KRAS-mutated tumours. This subgroup of patients is evaluated in the present analysis, while the study is ongoing for patients with KRAS wild-type tumours. METHODS: Patients were randomly assigned to FOLFIRI (Tournigand regimen) every 2 weeks plus cetuximab (400 mg/m2 day 1, followed by 250 mg/m2 weekly=arm A) or bevacizumab (5 mg/kg every 2 weeks=arm B). Among 336 randomised patients, KRAS mutation was demonstrated in 100 assessable patients. The primary study end point was objective response rate (ORR). RESULTS: ORR was 44% [95% confidence interval (CI) 29% to 59%] in arm A versus 48% (95% CI, 33% to 62%) in arm B. Progression-free survival was 7.5 versus 8.9 months (hazard ratio: 1.0) and overall survival was 22.7 versus 18.7 months (hazard ratio: 0.86) in arms A versus B, respectively. CONCLUSIONS: This is the first head to head comparison of cetuximab versus bevacizumab in first-line treatment of mCRC. In the present evaluation of patients with KRAS-mutated tumours, neither strategy demonstrated a clearly superior outcome.

Prevalence of clinically relevant antibiotic resistance genes in surface water samples collected from Germany and Australia.

The prevalence and proliferation of antibiotic resistant bacteria is profoundly important to human health, but the extent to which aquatic environments contribute toward the dissemination of antibiotic resistant genes (ARGs) is poorly understood. The prevalence of 24 ARGs active against eight antibiotic classes (ß-lactams, aminoglycosides, glycopeptides, chloramphenicols, tetracycline, macrolides, trimethoprim, and sulfonamides) was evaluated in surface water samples collected from Germany and Australia with culture independent methods. The ARGs most frequently detected both in Germany and Australia were sulI, sulII (77-100%), and dfrA1 (43-55%) which code for resistance to sulfonamide and trimethoprim. Macrolides resistance gene ermB was relatively more prevalent in the surface water from Germany (68%) than Australia (18%). In contrast, the chloramphenicol resistance gene catII was more frequently detected in Australia (64%) than Germany (9%). Similarly, ß-lactams resistance gene ampC was more prevalent in the samples from Australia (36%) than Germany (19%). This study highlights wide distribution of ARGs for sulfonamide, trimethoprim, macroline, ß-lactams and chloramphenicol in the aquatic ecosystems. Aquatic ecosystems can therefore be reservoirs of ARGs genes which could potentially be transferred from commensal microorganisms to human pathogens.

[Complementary therapy in palliative medicine]. / Komplementärtherapie in der Palliativmedizin.

Even in the palliative context complementary therapy has a high value for patients and their relatives. In contrast to the methods of conventional medicine naturopathy as a holistic system has positive meanings for patients and their family. Complementary medicine in the palliative setting can be used as a supportive therapy in carefully selected cases. Doctors and patients should be careful regarding effect and side effects and should make sure that supportive therapy is given adequately and in effective doses. Complementary therapy should not be used in order to avoid the question of life and death. An adequate approach to the topic is mandatory, which acknowledges the needs of patients but also looks for their safety. Patients following alternative therapies sometimes neglect helpful therapeutic options. Carefully providing information on these therapies is mandatory. Physicians should avoid losing patients' confidence in their competence and attention in their final course of disease. Also in palliative medicine a sensitive approach to the topic of complementary medicine is mandatory, which accounts for the eligible wishes of patients and their relatives but puts the patients safety first.

Imaging photopolarimeter on pioneer saturn.

An imaging photopolarimeter aboard Pioneer 11, including a 2.5-centimeter telescope, was used for 2 weeks continuously in August and September 1979 for imaging, photometry, and polarimetry observations of Saturn, its rings, and Titan. A new ring of optical depth < 2 x 10(-3) was discovered at 2.33 Saturn radii and is provisionally named the F ring; it is separated from the A ring by the provisionally named Pioneer division. A division between the B and C rings, a gap near the center of the Cassini division, and detail in the A, B, and C rings have been seen; the nomenclature of divisions and gaps is redefined. The width of the Encke gap is 876 +/- 35 kilometers. The intensity profile and colors are given for the light transmitted by the rings. A mean particle size less, similar 15 meters is indicated; this estimate is model-dependent. The D ring was not seen in any viewing geometry and its existence is doubtful. A satellite, 1979 S 1, was found at 2.53 +/- 0.01 Saturn radii; the same object was observed approximately 16 hours later by other experiments on Pioneer 11. The equatorial radius of Saturn is 60,000 +/- 500 kilometers, and the ratio of the polar to the equatorial radius is 0.912 +/- 0.006. A sample of polarimetric data is compared with models of the vertical structure of Saturn's atmosphere. The variation of the polarization from the center of the disk to the limb in blue light at 88 degrees phase indicates that the density of cloud particles decreases as a function of altitude with a scale height about one-fourth that of the gas. The pressure level at which an optical depth of 1 is reached in the clouds depends on the single-scattering polarizing properties of the clouds; a value similar to that found for the Jovian clouds yields an optical depth of 1 at about 750 millibars.

Associated malformations in cases with congenital diaphragmatic hernia.

The etiology of congenital diaphragmatic hernia (CDH) is unclear and its pathogenesis is controversial. Because previous reports have inconsistently noted the type and frequency of malformations associated with CDH, we assessed these associated malformations ascertained between 1979 and 2003 in 334,262 consecutive births. Of the 115 patients with the most common type of CDH, the posterolateral, or Bochdalek-type hernia, 70 (60.8%) had associated malformations. These included: chromosomal abnormalities (n = 21, 30.0%); non-chromosomal syndromes (Fryns syndrome, fetal alcohol syndrome, De Lange syndrome, CHARGE syndrome, Fraser syndrome, Goldenhar syndrome, Smith-Lemli-Opitz syndrome, multiple pterygium syndrome, Noonan syndrome, and spondylocostal dysostosis); malformation sequences (laterality sequence, ectopia cordis); malformation complexes (limb body wall complex) and non syndromic multiple congenital anomalies (MCA) (n = 30, 42.9%). Malformations of the cardiovascular system (n = 42, 27.5%), urogenital system (n = 27, 17.7%), musculoskeletal system (n = 24, 15.7%), and central nervous system (n = 15, 9.8%) were the most common other congenital malformations. We observed specific patterns of malformations associated with CDH which emphasizes the need to evaluate all patients with CDH for possible associated malformations. Geneticists and pediatricians should be aware that the malformations associated with CDH can often be classified into a recognizable malformation syndrome or pattern (57.1%).

Early major complications after bariatric surgery in the USA, 2003-2014: a systematic review and meta-analysis.

The effectiveness of bariatric surgery has been well-studied. However, complications after bariatric surgery have been understudied. This review assesses <30-d major complications associated with bariatric procedures, including anastomotic leak, myocardial infarction and pulmonary embolism. This review included 71 studies conducted in the USA between 2003 and 2014 and 107,874 patients undergoing either gastric bypass, adjustable gastric banding or sleeve gastrectomy, with mean age of 44 years and pre-surgery body mass index of 46.5 kg m-2 . Less than 30-d anastomotic leak rate was 1.15%; myocardial infarction rate was 0.37%; pulmonary embolism rate was 1.17%. Among all patients, mortality rate following anastomotic leak, myocardial infarction and pulmonary embolism was 0.12%, 0.37% and 0.18%, respectively. Among surgical procedures, <30-d after surgery, sleeve gastrectomy (1.21% [95% confidence interval, 0.23-2.19%]) had higher anastomotic leak rate than gastric bypass (1.14% [95% confidence interval, 0.84-1.43%]); gastric bypass had higher rates of myocardial infarction and pulmonary embolism than adjustable gastric banding or sleeve gastrectomy. During the review, we found that the quality of complication reporting is lower than the reporting of other outcomes. In summary, <30-d rates of the three major complications after either one of the procedures range from 0% to 1.55%. Mortality following these complications ranges from 0% to 0.64%. Future studies reporting complications after bariatric surgery should improve their reporting quality.

Associated malformations in patients with anorectal anomalies.

Patients with congenital anorectal malformations (ARM) often have other associated congenital defects. The reported incidence and the types of associated malformations vary between different studies. The purpose of this investigation was to assess the prevalences at birth of associated malformations in patients of a geographically defined population with ARM which were collected between 1979 and 2003 in 334, 262 consecutive births. Of the 174 patients with ARM during the study period, 49.4% had associated malformations. Patients with associated malformations were further classified into groups with nonsyndromic multiple congenital anomalies; chromosomal abnormalities; nonchromosomal syndromes including Townes-Brocks, Walker-Warburg, Ivemark, Fetal alcohol, Klippel-Feil, Pallister-Hall, Facio-auriculo-vertebral spectrum, deletion 22q11.2; sequences, including OEIS, Pierre Robin and sirenomelia; and associations including VATER and MURCS. Malformations of the urogenital system (81.1%) and of the skeletal system (45.5%) were the most common other congenital anomalies occurring with ARM in multiply malformed patients without recognized entities, followed by malformations of the cardiovascular system, the digestive system, and the central nervous system. Weight, length, and head circumference of children with ARM and multiple associated malformations were lower than in controls, as was the weight of the placenta. Prenatal detection by fetal ultrasonographic examination was rarely made in isolated ARM. However, even in multiple associated malformations, prenatal detection by fetal ultrasonographic examination had a low sensitivity, 36%. In conclusion the overall prevalence of malformations, which was close to 1 in two infants, emphasizes the need for a thorough investigation of patients with ARM. A routine screening for other malformations may be considered in patients with ARM, and genetic counseling seems warranted in most of these complicated cases.

Associated malformations in cases with neural tube defects.

Infants with neural tube defects (NTDs) may have other associated congenital defects. The reported incidence and the types of associated malformations vary between different studies. The purpose of this investigation was to assess the prevalence of associated malformations in a geographically defined population. The prevalences at birth of associated malformations in infants with NTDs were collected between 1979 and 2003 on all infants born in the area covered by the registry of congenital anomalies of Northeastern France in 334,262 consecutive births. Of the 360 infants with NTDs born during this period, 20.5 % had associated malformations. Associated malformations were more frequent in infants who had encephalocele (37.5 %) than in infants with anencephaly (11.8 %) or infants with spina bifida (23.7 %). Malformations in the face (oral clefts), in the musculoskeletal system, in the renal system, and in the cardiovascular system were the most common other anomalies. In conclusion the overall prevalence of malformations, which was one in five infants, emphasizes the need for a thorough investigation of infants with NTDs. A routine screening for other malformations especially facial clefts, musculoskeletal, renal and cardiac anomalies may need to be considered in infants with NTDs, and genetic counseling seems warranted in most of these complicated cases.

Are the recommendations on the prevention of neural tube defects working?

Many studies showed that reduction by an estimated 80% or more of neural tube defects (NTD) by consumption of folic acid from before conception is achievable. The objectives of this study were to evaluate the effectiveness of recommendations on folic acid aimed at reducing the occurrence of NTD in our region. Cases of NTD were ascertained among liveborn infants, stillbirths, and terminations of pregnancy. Incidences and trends in rates of NTD before and after 1992 (the year of the first recommendations) and before and after 1995 (the year of local recommendations) were obtained. The results showed that the issuing of recommendations on folic acid was followed by no detectable improvement in the trends of incidence of NTD. The rates of NTD per 10,000 were before 1992 9.07, from 1993 to 1995 8.14, and after 1995 10.62, respectively. The incidence rate ratios (IRRs) were not different from 1.00. In conclusion new cases preventable by folic acid continue to accumulate. Recommendations alone did not influence trends in NTD in our country up to 11 years after the confirmation of the effectiveness of folic acid in clinical trials. New strategies are needed.