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European Journal of Translational... Mar 2024Scientific conferences increasingly suffer from the need for short presentations in which speakers like to dwell on the details of their work. A mitigating factor is to...
Scientific conferences increasingly suffer from the need for short presentations in which speakers like to dwell on the details of their work. A mitigating factor is to encourage discussion and planning of collaborations by organizing small meetings in a hotel large enough to host all attendees. This extends discussions' opportunities during morning breakfasts, lunches, dinners and long evenings together. Even if the vast majority of participants will not stay for the entire duration of the Conference, the possibilities for specialists to interact with specialists who are even very distant in terms of knowledge increase enormously. In any case, the results in terms of new job opportunities for young participants outweigh the costs for the organizers. Thirty years of Padova Muscle Days offer many examples, but the authors of this report on the state of the art of Mobility Medicine testify that this also happened in the 2024 Five Days of Muscle and Mobility Medicine (2024Pdm3) hosted at the Hotel Petrarca, Thermae of Euganea Hills and Padua, Italy which is in fact a valid countermeasure to the inevitable tendencies towards hyperspecialization that the explosive increase in scientific progress brings with it.
PubMed: 38526419
DOI: 10.4081/ejtm.2024.12492 -
Journal of Surgical Case Reports Mar 2024The omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a rare birth disorder involving a combination of gastrointestinal, musculoskeletal, renal,...
The omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a rare birth disorder involving a combination of gastrointestinal, musculoskeletal, renal, neural, and genitourinary system defects. We present a case report of a neonate with OEIS born by vertex spontaneous delivery to non-consanguineous parents. The major presenting defect was exstrophy of the cecum lying between two exstrophied halves of the bladder, an imperforate anus and spina bifida myelomeningocele. Explorative laparotomy revealed a duplex kidney system, attachment of the terminal ileum and cecum to the exstrophy, and a sausage-like atretic large bowel. Malrotation was also noted. Ladd's bands were released followed by ileostomy and ureterostomy. Patient was stable post-operatively and in the incubator on room air. OEIS remains a challenging anomaly that requires optimal treatment to facilitate the quality of life. With appropriate surgical intervention, the functional and social treatment goals for this unusual congenital defect can be met.
PubMed: 38505329
DOI: 10.1093/jscr/rjae166 -
Italian Journal of Pediatrics Mar 2024Urinary and fecal incontinence in people dealing with spina bifida, has inevitably an influence on the quality of life. In this analysis, the degree of education on how...
Nursing management of patients dealing with spina bifida: from the prenatal diagnosis to adulthood / nursing intervention for the improvement of the impact of urinary and fecal incontinence on the quality of life of people dealing with spina bifida.
BACKGROUND
Urinary and fecal incontinence in people dealing with spina bifida, has inevitably an influence on the quality of life. In this analysis, the degree of education on how to manage incontinence and retention is studied, as well as the problems those might create and the consequential degree of autonomy and independence reached into the management of those. The main goal is to increase both nursing assistance and the education of the people dealing with spina bifida.
METHODS
A multiple-choice questionnaire with open questions, concerning the bowel and bladder management was structured by all the authors and shared by the Google Docs platform among the members of the ASBI (Associazione Spina Bifida Italia) by the secretariat of the association itself. 125 patients affected by Spina Bifida voluntarily decided to participate and complete the questionnaire. The questionnaire didn't set any limits as regards the age. For minors, its completion was made under the observation of the caregivers who gave their consent. All the authors participated to administration of the questionnaire to minors.
RESULTS
out of 125 participants, 80 were females and 25 males. The questions concerned the level of deambulation (the 35,2% was autonomous, the 30,4% were people who use wheelchairs while the 34,4% is aid-supported), urinary incontinence, with great concern to the self-catheterization technique (the 80,8% claimed to be autonomous in performing self-catheterization, unlike the remaining 19,2%) and the impact of the said incontinence on social life (the 59,2% claimed they do not feel restrained because of their bladder incontinence or retention, unlike the remaining 40,8%). Lastly, we focused on fecal constipation and incontinence (the 57,6% claimed to struggle with incontinence, the 12% claimed they don't and the 30,4% struggles with both conditions), on the ability of the people dealing with this to intervene to prevent unpleasant situations, in particular by using trans-anal irrigation (the 57,6% doesn't feel autonomous in performing it).
CONCLUSION
urinary and fecal incontinence have, of course, an impact on the quality of life of people dealing with spina bifida. Nevertheless, we can observe that it is possible to improve the quality of life of these people, letting them feel confident enough to take part in social activities, through education from an incredibly young age, from 0 up to 25 years old and over, supplied by the medical staff and mostly by the parents (previously educated by the medical staff as well).
Topics: Male; Pregnancy; Female; Humans; Fecal Incontinence; Quality of Life; Constipation; Urinary Incontinence; Prenatal Diagnosis; Spinal Dysraphism
PubMed: 38475900
DOI: 10.1186/s13052-024-01579-z -
International Journal of Molecular... Mar 2024Distinct miRNA expression patterns may reflect anomalies related to fetal congenital malformations such as spinal bifida (SB). The aim of this preliminary study was to...
Distinct miRNA expression patterns may reflect anomalies related to fetal congenital malformations such as spinal bifida (SB). The aim of this preliminary study was to determine the maternal miRNA expression profile of women carrying fetuses with SB. Therefore, six women carrying fetuses with SB and twenty women with euploid healthy fetuses were enrolled in this study. Using NanoString technology, we evaluated the expression level of 798 miRNAs in both plasma and amniotic fluid samples. A downregulation of miR-1253, miR-1290, miR-194-5p, miR-302d-3p, miR-3144-3p, miR-4536-5p, miR-548aa + miR-548t-3p, miR-548ar-5p, miR-548n, miR-590-5p, miR-612, miR-627-5p, miR-644a, and miR-122-5p, and an upregulation of miR-320e, let-7b-5p, miR-23a-3p, miR-873-3p, and miR-30d-5p were identified in maternal amniotic fluid samples in SB when compared to the control group. The target genes of these miRNAs play a predominant role in regulating the synthesis of several biological compounds related to signaling pathways such as those regulating the pluripotency of stem cells. Moreover, the maternal plasma expression of miR-320e was increased in pregnancies with SB, and this marker could serve as a valuable non-invasive screening tool. Our results highlight the SB-specific miRNA signature and the differentially expressed miRNAs that may be involved in SB pathogenesis. Our findings emphasize the role of miRNA as a predictive factor that could potentially be useful in prenatal genetic screening for SB.
Topics: Pregnancy; Humans; Female; MicroRNAs; Spinal Diseases; Down-Regulation; Up-Regulation; Spinal Dysraphism
PubMed: 38474143
DOI: 10.3390/ijms25052896 -
Journal of Neurosurgery. Case Lessons Mar 2024Iniencephaly is a rare neural tube defect (NTD) characterized by deformities in the occiput and inion, along with rachischisis in the cervical and thoracic spine,...
BACKGROUND
Iniencephaly is a rare neural tube defect (NTD) characterized by deformities in the occiput and inion, along with rachischisis in the cervical and thoracic spine, resulting in the head appearing in retroflexion.
OBSERVATIONS
This report details the case of a female newborn who underwent surgery for an encephalocele. She survived up to 6 months, exhibiting good overall health, although she displayed physical abnormalities, including facial deformity, a short neck, and minor spasms in all limbs. Both cardiovascular and abdominal assessments remained stable, and imaging revealed defects in the occipital bone, a large cephalocele, and spinal dysraphism.
LESSONS
Although iniencephaly is generally incompatible with life, a few cases have been reported otherwise. Our patient, one of these notable exceptions, remains alive at 6 months old, possibly due to the lack of major vascular deformities. However, she does exhibit significant psychomotor retardation.
PubMed: 38467043
DOI: 10.3171/CASE2414 -
Preventive Medicine Reports Apr 2024Examine the association between traditional Medicare (TM) vs. commercial insurance and the use of preventive care and potentially preventable hospitalization (PPH) among...
Use of preventive service and potentially preventable hospitalization among American adults with disability: Longitudinal analysis of Traditional Medicare and commercial insurance.
OBJECTIVE
Examine the association between traditional Medicare (TM) vs. commercial insurance and the use of preventive care and potentially preventable hospitalization (PPH) among adults (18+) with disability [cerebral palsy/spina bifida (CP/SB); multiple sclerosis (MS); traumatic spinal cord injury (TSCI)] in the United States.
METHODS
Using 2008-2016 Medicare and commercial claims data, we compared adults with the same disability enrolled in TM vs. commercial insurance [Medicare: n = 21,599 (CP/SB); n = 7,605 (MS); n = 4,802 (TSCI); commercial: n = 11,306 (CP/SB); n = 6,254 (MS); n = 5,265 (TSCI)]. We applied generalized estimating equations to address repeated measures, comparing cases with controls. All models were adjusted for age, sex, race/ethnicity, and comorbid conditions.
RESULTS
Compared with commercial insurance, enrolling in TM reduced the odds of using preventive services. For example, adjusted odds ratios (OR) of annual wellness visits in TM vs. commercial insurance were 0.31 (95% confidence interval (CI): 0.28-0.34), 0.32 (95% CI: 0.28-0.37), and 0.19 (95% CI: 0.17-0.22) among adults with CP/SB, TSCI, and MS, respectively. Furthermore, PPH risks were higher in TM vs. commercial insurance. ORs of PPH in TM vs. commercial insurance were 1.50 (95% CI: 1.18-1.89), 1.83 (95% CI: 1.40-2.41), and 2.32 (95% CI: 1.66-3.22) among adults with CP/SB, TSCI, and MS, respectively. Moreover, dual-eligible adults had higher odds of PPH compared with non-dual-eligible adults [CP/SB: OR = 1.47 (95% CI: 1.25-1.72); TSCI: OR = 1.61 (95% CI: 1.35-1.92), and MS: OR = 1.80 (95% CI: 1.55-2.10)].
CONCLUSIONS
TM, relative to commercial insurance, was associated with lower receipt of preventive care and higher PPH risk among adults with disability.
PubMed: 38464419
DOI: 10.1016/j.pmedr.2024.102663 -
Research Square Feb 2024Spina bifida, a developmental malformation of the spinal cord, is associated with high rates of mortality and disability. Although folic acid-based preventive strategies...
BACKGROUND
Spina bifida, a developmental malformation of the spinal cord, is associated with high rates of mortality and disability. Although folic acid-based preventive strategies have been successful in reducing rates of spina bifida, some areas continue to be at higher risk because of chemical exposures. Bangladesh has high arsenic exposures through contaminated drinking water and high rates of spina bifida.
METHODS
We conducted a hospital-based case-control study at the National Institute of Neurosciences & Hospital (NINS&H) in Dhaka, Bangladesh, between December 2016 and December 2022. Cases were infants under age one year with spina bifida and further classified using data from observations by neurosurgeons and available imaging. Controls were drawn from children who presented to NINS&H or Dhaka Shishu Hospital (DSH) during the same study period. Mothers reported folic acid use during pregnancy, and we assessed folate status with serum assays. Arsenic exposure was estimated in drinking water using graphite furnace atomic absorption spectrophotometry (GF-AAS) and in toenails using inductively coupled plasma mass spectrometry (ICP-MS).
RESULTS
We evaluated data from 294 cases of spina bifida and 163 controls. We did not find a main effect of mother's arsenic exposure on spina bifida risk. However, in stratified analyses, folic acid use was associated with lower odds of spina bifida (adjusted odds ratio [OR]: 0.50, 95% confidence interval [CI]: 0.25-1.00, p = 0.05) among women with toenail arsenic concentrations below the median, and no association was seen among mothers with toenail arsenic concentrations higher than median (adjusted OR: 1.09, 95% CI: 0.52-2.29, p = 0.82).
CONCLUSIONS
Mother's arsenic exposure modified the protective association of folic acid with spina bifida. Increased surveillance and additional preventive strategies, such as folic acid fortification and reduction of arsenic, are needed in areas of high arsenic exposure.
PubMed: 38464105
DOI: 10.21203/rs.3.rs-3989039/v1 -
Journal of Surgical Case Reports Mar 2024We present the case of a 3-week-old girl with LUMBAR syndrome, a rare condition involving segmental infantile hemangiomas (IH) in the lumbosacral region, myelopathy, and...
We present the case of a 3-week-old girl with LUMBAR syndrome, a rare condition involving segmental infantile hemangiomas (IH) in the lumbosacral region, myelopathy, and other congenital anomalies. The patient developed severe ulceration of a left buttock IH. Treatment included broad-spectrum antibiotics, debridement, and a laparoscopic temporary colostomy. Propranolol therapy, wound care, and fecal diversion led to successful healing of the ulceration. The report highlights the challenges of ulcerated IH in the perineal area due to exposure to urine and stool. The comprehensive approach resulted in positive outcomes, including the successful surgical treatment of spinal dysraphism, successful colostomy reversal, and developmental progress. This case contributes insight into the surgical management of severe perianal ulcerated IH associated with LUMBAR syndrome, highlighting the importance of a tailored surgical approach with a multidisciplinary framework.
PubMed: 38463743
DOI: 10.1093/jscr/rjae114 -
JAMA Network Open Mar 2024India has a disproportionately high prevalence of neural tube defects, including spina bifida and anencephaly (SBA), causing a high number of stillbirths, elective...
IMPORTANCE
India has a disproportionately high prevalence of neural tube defects, including spina bifida and anencephaly (SBA), causing a high number of stillbirths, elective pregnancy terminations, and child mortality; India contributes a large proportion of the global burden of SBA. Thirty years after folic acid was shown to be effective in reducing SBA prevalence, only about one-quarter of such births are prevented globally through cereal grain fortification.
OBJECTIVE
To determine the association of folic acid-fortified iodized salt with serum folate concentrations among nonpregnant and nonlactating women of reproductive age.
DESIGN, SETTING, AND PARTICIPANTS
This nonrandomized controlled trial using a preintervention and postintervention design was conducted in 4 rural villages in Southern India from July 1 to November 30, 2022. All households in the villages agreed to participate in the study. Preintervention and postintervention serum folate levels were analyzed among study participants at baseline and after 4 months, respectively.
INTERVENTION
Consumption of approximately 300 µg/d of folic acid using double fortified salt (folic acid plus iodine). Median serum folate concentrations were assessed at baseline and 4 months.
MAIN OUTCOMES AND MEASURES
Change in median serum folate levels between baseline and study end point as the primary outcome of the study.
RESULTS
A total of 83 nonpregnant nonlactating women aged 20 to 44 years (mean [SD] age, 30.9 [5.1] years) were eligible for the study and provided serum samples for analysis at baseline and the end point of the intervention. The median serum folate concentration increased from 14.6 (IQR, 11.2-20.6) nmol/L at baseline to 54.4 (IQR, 43.5-54.4) nmol/L at end of study, a 3.7-fold increase from baseline to study end point. Two-tailed Wilcoxon signed rank test showed the median difference in preintervention and postintervention serum folate concentrations to be highly significant (P < .001). The participants found the salt acceptable in color and taste.
CONCLUSIONS AND RELEVANCE
Use of folic acid-fortified iodized salt was associated with increased serum folate concentrations in women of reproductive age. This novel evidence can inform public health policy to accelerate SBA prevention.
TRIAL REGISTRATION
ClinicalTrials.gov Identifier: NCT06174883.
Topics: Adult; Female; Humans; Folic Acid; Food, Fortified; Iodine; Neural Tube Defects; Sodium Chloride, Dietary; Spinal Dysraphism; Young Adult
PubMed: 38457177
DOI: 10.1001/jamanetworkopen.2024.1777 -
International Journal of Surgery Case... Apr 2024Spina bifida (SB), as one of the spine abnormalities, is caused by incomplete closure of the neural tube and generally includes two types: open and closed. This study...
INTRODUCTION
Spina bifida (SB), as one of the spine abnormalities, is caused by incomplete closure of the neural tube and generally includes two types: open and closed. This study aims to introduce one of the rare cases of closed SB.
CASE PRESENTATION
A 34-year-old male patient was admitted to the hospital with neck pain. Radiographic and computed tomography (CT) imaging revealed bifid spinous processes from C to T vertebrae, indicative of a rare case of closed SB in the cervicothoracic region.
CLINICAL DISCUSSION
Closed SB, while often regarded as benign, can be associated with various pathologies that require follow-up.
CONCLUSION
Diagnosing this abnormality is crucial for addressing potential complications that may arise from it.
PubMed: 38452644
DOI: 10.1016/j.ijscr.2024.109477