Fetal renal cystic disease and post-natal follow up-a single center experience.

Introduction: Prenatal sonographic evidence of large, echogenic, or cystic kidneys may indicate any one of a diverse set of disorders including renal ciliopathies, congenital anomalies of the kidney and urinary tract (CAKUT), or multisystem syndromic disorders. Systematic transition planning for these infants from in utero detection to post-natal nephrology management remains to be established. Aim of the work: We sought to evaluate the presentation and transition planning for infants identified in utero with bilateral renal cystic disease. Methods: Our retrospective observational study identified 72 pregnancies with bilateral renal cystic disease in a single center from 2012 to 2022; 13 of which had a confirmed renal ciliopathy disorder. Clinical and imaging data, genetic test results, and documentation of postnatal follow-up were collected and compared. Results: In our suspected renal ciliopathy cohort (n = 17), autosomal recessive polycystic disease (ARPKD) was the most common diagnosis (n = 4), followed by Bardet-Biedl syndrome (BBS, n = 3), autosomal dominant polycystic disease (ADPKD, n = 2), HNF1B-related disease (n = 2), and Meckel-Gruber syndrome (MKS, n = 2). Four cases were not genetically resolved. Anhydramnios was observed primarily in fetuses with ARPKD (n = 3). Polydactyly (n = 3) was detected only in patients with BBS and MKS, cardiac defects (n = 6) were identified in fetuses with ARPKD (n = 3), MKS (n = 2), and BBS (n = 1), and abnormalities of the CNS (n = 5) were observed in patients with ARPKD (n = 1), MKS (n = 2), and BBS (n = 3). In general, documentation of transition planning was incomplete, with post-natal nephrology management plans established primarily for infants with renal ciliopathies (n = 11/13; 85%). Conclusion: Prenatal sonographic detection of echogenic kidneys should raise suspicion for a broad range of disorders, including renal ciliopathies and CAKUT. Multicenter collaboration will be required to standardize the implementation of transition guidelines for comprehensive nephrology management of infants identified in utero with enlarged, echogenic kidneys.

Prenatal diagnosis of diencephalic-mesencephalic junction dysplasia: Fetal magnetic resonance imaging phenotypes, genetic diagnoses, and outcomes.

OBJECTIVE: Report a single-center 12-year experience in the fetal diagnosis of diencephalic-mesencephalic junction dysplasia (DMJD) to expand the phenotype with Magnetic resonance imaging (MRI)-based classification, evaluate genetic etiologies, and ascertain outcomes. METHODS: Retrospective medical record and imaging review of all fetal MRI exams with DMJD were performed at our institution. RESULTS: Thirty-three pregnancies with fetal MRI findings of DMJD at 24 (18-37) weeks gestational age were studied; 70% were referred for fetal hydrocephalus. Three fetal MRI patterns were recognized. Type A (butterfly/hypothalamus-midbrain union) was seen in two cases (6%), Type B (partial thalamus-midbrain union) in 22 fetuses (70%), and Type C (complete/near complete midbrain-thalamic continuity) in nine fetuses (24%). L1CAM mutations were identified in four cases, and biallelic VRK1 variants in another. Among 14 live-born cases, 11 survived infancy, and 10 underwent postnatal brain MRI which confirmed the fetal MRI diagnosis in all but one case. Development was delayed in all surviving infants, most with additional neurological sequelae. CONCLUSIONS: DMJD may be identified by prenatal MRI as early as 18 weeks gestation. We propose three distinct phenotypic forms of DMJD, Types A-C. Next-generation sequencing provides an underlying molecular diagnosis in some patients, but further studies on associated genetic diagnoses and clinical outcomes are indicated.

The key role of the pediatric radiologist in developing a multidisciplinary fetal center.

With the demand for fetal imaging and fetal care programs on the rise, the authors of this manuscript review the components of building a successful fetal imaging center. Creating an environment that engages a multidisciplinary team, utilizing a central coordinator to review clinical and psychosocial aspects of each patient, and ensuring ongoing research and quality control are essential components to the success of growing a program.

High-intensity, sport-specific cardiac rehabilitation training of a 22-year-old competitive cyclist after spontaneous coronary artery dissection.

A 22-year-old man with spontaneous coronary artery dissection wanted to assess the feasibility of returning to competitive cycling. He was referred to the cardiac rehabilitation (CR) program at Baylor Hamilton Heart and Vascular Hospital where staff designed a high-intensity, sport-specific training program that simulated the movements and forces associated with his goal activity. The program was symptom limited and enabled the patient to train earlier and at a higher intensity than is typically allowed in conventional CR programs. Daily exercise training was customized to match the physical demands of competitive cycling by using a road bike, an indoor bike power trainer, and an interactive indoor-cycling software program. This case illustrates how specialized CR training, tailored to a patient's specific goals, can aid in the return to vigorous physical activity. He completed the high-intensity exercise training program without adverse signs or symptoms.

Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata.

BACKGROUND: Chondrodysplasia punctata is a skeletal dysplasia caused by a diverse spectrum of etiologies, with outcomes ranging from antenatal demise to a normal life span. Prenatal detection can be challenging. OBJECTIVE: To review a series of cases of chondrodysplasia punctata associated with nasomaxillary hypoplasia, known as the Binder phenotype, and to highlight prenatal ultrasound and MRI findings, as well as postnatal MRI and radiographic findings. MATERIALS AND METHODS: We retrospectively reviewed ultrasound, MRI and radiographic imaging findings in postnatally confirmed cases of chondrodysplasia punctata from 2001 to 2017. We analyzed prenatal findings and correlated them with maternal history, postnatal imaging, phenotype, genetics and outcome. RESULTS: We identified eight cases, all with prenatal US and six of eight with prenatal MRI between 18 weeks and 32 weeks of gestational age. Reasons for referral included midface hypoplasia in four cases; family history in one case; intrauterine growth restriction in one case; short long-bones, intrauterine growth restriction and multicystic kidney in one case; and multiple anomalies in one case. In six cases, postnatal radiographs were performed. In four cases, postnatal spine MRI imaging was performed. The diagnosis of chondrodysplasia punctata was suggested in prenatal reports in six of eight fetuses. Seven of eight fetuses had Binder phenotype with severe nasomaxillary hypoplasia. Limb length was mildly symmetrically short in four of eight cases and normal in four of eight fetuses. Two of eight fetuses had epiphyseal stippling identified prenatally by US; this was present postnatally in six neonates on radiographs. Hand and foot abnormalities of brachytelephalangy were not detected on the prenatal US or MRI but were present in six of eigth fetuses on postnatal radiographs or physical exam. Four of eight fetuses had prenatal spine irregularity on US from subtle stippling. Six of eight had spine stippling on postnatal radiographs. One fetus had cervicothoracic kyphosis on prenatal US and MRI, and this was postnatally present in one additional neonate. One case had prenatally suspected C1 spinal stenosis with possible cord compression, and this was confirmed postnatally by MRI. There was a maternal history of systemic lupus erythematosus in two and hyperemesis gravidarum in one. Outcomes included one termination and seven survivors. CONCLUSION: Chondrodysplasia punctata can be identified prenatally but findings are often subtle. The diagnosis should be considered when a fetus presents with a hypoplastic midface known as the Binder phenotype. Maternal history of lupus, or other autoimmune diseases or hyperemesis gravidarum can help support the diagnosis.

Team counseling in prenatal evaluation: the partnership of the radiologist and genetic counselor.

Fetal medicine programs within children's hospitals have been developed to ensure access to pediatric specialists across multiple disciplines. The cases that present to these programs are usually complex and require involvement of a multidisciplinary care team. Although some providers on the team limit their focus to their pediatric specialty when counseling patients, the radiologist and genetic counselor have a distinct perspective allowing them to take the larger picture into account in the evaluation of the fetus. As first responders, they come together to review images and identify which consultants are most appropriate to counsel the families, and they can help guide patient discussions. In this paper we demonstrate how the combined expertise of the genetic counselor and pediatric radiologist can facilitate more accurate diagnoses and guide the appropriate management of complex fetal anomalies.

Effectiveness of neem seed oil methanolic extract shampoo versus permethrin shampoo in the reduction of head lice infestation in children / The Health Sciences Journal

INTRODUCTION@#This study compared the effectiveness and safety of neem (Azadirachta indica) seed oil methanolic extract shampoo against permethrin shampoo in reducing head lice infestation among children.@*METHODS@#A single-blind, non-inferiority, randomized clinical trial was conducted on children aged 6-14 years with pediculosis. Using block randomization, the participants were assigned to receive either 10% neem seed oil methanolic shampoo, 1% permethrin shampoo, or pure shampoo for three treatment applications at 10-day intervals. The presence of head lice after each application was determined by standard quadrant counting and compared with the baseline count within and among treatment groups.@*RESULTS@#There was a statistically significant difference in lice count after treatment for both neem and permethrin, with mean reductions of 17.8 ± 23.97 (p = 0.043) and 22.5 ± 23.47 (p = 0.014), respectively. Repeated Measures ANOVA showed a summary p-value of 0.041 for neem, 0.013 for permethrin, and 0.193 for the shampoo alone with a linear trend indicating a significant decrease in the lice counts from the baseline to the third application of neem and permethrin shampoo, but not in the shampoo group. There was no significant difference in the mean decrease in lice count from baseline to the third application between the neem and permethrin shampoo groups.@*CONCLUSION@#Neem seed oil methanolic extract shampoo is non-inferior and comparable to permethrin in the reduction of head lice count. There were no reported dermatologic adverse effects such as burning sensations, redness, skin irritation, and allergic reactions.

Measurement of Functional Capacity Requirements of Farmers: IMPLICATIONS FOR A CARDIAC REHABILITATION TRAINING PROGRAM.

PURPOSE: Updated cardiac rehabilitation (CR) and return-to-work guidelines from the American College of Sports Medicine (ACSM) now include specificity of training for industrial athletes (exercise training that involves the muscle groups, movements, and energy systems that these patients use during occupational tasks). However, many CR facilities do not apply this principle, relying instead on the traditional protocol that consists primarily of aerobic exercise. This study was conducted to measure the metabolic cost of typical farming tasks and to compare 2 methods of calculating training intensities. METHODS: Metabolic data were collected from 28 participants (23 men and 5 women, aged 18 to 57 years) while they loaded 10 hay bales, dug a fence posthole, filled 8 seed hoppers, and shoveled grain. RESULTS: Mean metabolic equivalent levels during these activities were 5.9 to 7.6 and participants reached 60% to 70% of heart rate reserve (HRR). By comparison, their mean resting heart rate + 30 beats per minute (RHR+30, a traditional CR intensity level) represented only 28% of HRR. CONCLUSIONS: Participants in the current study performed farming tasks within the ACSM's recommended range of 40% to 80% of HRR, and the results suggest that training at RHR+30 would have been inadequate for helping a farmer return to work after a cardiac event. Using the study tasks as a basis, we described exercises that would be appropriate for the supervised resistance training of farmers in a CR setting.

Emergency Department Length of Stay for Maori and European Patients in New Zealand.

INTRODUCTION: Emergency department length of stay (ED LOS) is currently used in Australasia as a quality measure. In our ED, Maori, the indigenous people of New Zealand, have a shorter ED LOS than European patients. This is despite Maori having poorer health outcomes overall. This study sought to determine drivers of LOS in our provincial New Zealand ED, particularly looking at ethnicity as a determining factor. METHODS: This was a retrospective cohort study that reviewed 80,714 electronic medical records of ED patients from December 1, 2012, to December 1, 2014. Univariate and multivariate analyses were carried out on raw data, and we used a complex regression analysis to develop a predictive model of ED LOS. Potential covariates were patient factors, temporal factors, clinical factors, and workload variables (volume and acuity of patients three hours prior to and two hours after presentation by a baseline patient). The analysis was performed using R studio 0.99.467. RESULTS: Ethnicity dropped out in the stepwise regression procedure; after adjusting for other factors, a specific ethnicity effect was not informative. Maori were, on average, younger, less likely to receive bloodwork and radiographs, less likely to go to our observation area, less likely to have a general practitioner, and more likely to be discharged and to self-discharge; all of these factors decreased their length of stay. CONCLUSION: Length of stay in our ED does not seem to be related to ethnicity alone. Patient factors had only a small impact on ED LOS, while clinical factors, temporal factors, and workload variables had much greater influence.

Male Prison Inmates With Gender Dysphoria: When Is Sex Reassignment Surgery Appropriate?

Gender dysphoria (GD), a feeling of persistent discomfort with one's biologic sex or assigned gender, is estimated to be more prevalent in male prison inmates than in nonincarcerated males; there may be 3000-4000 male inmates with GD in prisons in the United States. An increasing number of U.S. prison systems now offer gender dysphoric inmates diagnostic evaluation, psychotherapy, cross-sex hormone therapy, and opportunities, albeit limited, to enact their preferred gender role. Sex reassignment surgery (SRS), however, has not been offered to inmates except in response to litigation. In the first case of its kind, the California Department of Corrections and Rehabilitation recently agreed to provide SRS to an inmate and developed policy guidelines for its future provision. In other recent cases, U.S. courts have ruled that male inmates with GD are entitled to SRS when it is medically necessary. Although these decisions may facilitate the provision of SRS to inmates in the future, many U.S. prison systems will probably remain reluctant to offer SRS unless legally compelled to do so. In this review, we address the medical necessity of SRS for male inmates with GD. We also discuss eligibility criteria and the practical considerations involved in providing SRS to inmates. We conclude by offering recommendations for physicians, mental health professionals, and prison administrators, designed to facilitate provision of SRS to inmates with GD in a manner that provides humane treatment, maximizes the likelihood of successful outcomes, minimizes risk of regret, and generates data that can help inform future decisions.

Prenatal counseling tools for the pediatric radiologist as part of a multidisciplinary team.

Fetal abnormalities are present in 3-5% of all pregnancies, leading to increased anxiety and the need for important discussions between patients and their care providers. Regardless of the severity of the anomaly, receiving the information can be traumatic for the pregnant patient and her partner. Most physicians who aren't trained to provide prenatal counseling understandably feel uncomfortable with the uncertainty and complex issues that arise in such high-stress counseling sessions. Genetic counselors are specifically trained to counsel patients in the setting of a fetal abnormality; however additional input from pediatric radiologists and other pediatric specialists is invaluable to parents in these situations and such input is an essential part of a team approach to prenatal counseling. The goal of this article is to provide a basic approach to counseling in the prenatal setting for pediatric radiologists and other specialists.

High-intensity cardiac rehabilitation training of a commercial pilot who, after percutaneous coronary intervention, wanted to continue participating in a rigorous strength and conditioning program.

After undergoing elective percutaneous coronary intervention, a 64-year-old commercial pilot was referred to cardiac rehabilitation. His stated goals were to continue participating in a rigorous strength and conditioning program at a community workout facility and to resume working as a pilot. To help him meet those goals, we designed and implemented a regimen of high-intensity exercises, with quick transitions between a variety of tasks that are not typically included in cardiac rehabilitation programs (e.g., medicine ball throws, push-ups, dead lifts, squats, military presses, sprints, and lunges). The training was symptom limited, enabling the patient to reach extreme levels of physical exertion in a controlled, monitored setting. By studying his training data (heart rate, blood pressure, and rating of perceived exertion), we were able to give him specific recommendations for controlling his exercise intensity after graduating from our program. More than 18 months later, he continues to exercise vigorously 3 days per week and is working as a commercial pilot.

An alternative approach to prescribing sternal precautions after median sternotomy, "Keep Your Move in the Tube".

Traditional sternal precautions, given to sternotomy patients as part of their discharge education, are intended to help prevent sternal wound complications. They vary widely but generally include arbitrary load and time restrictions (lifting no more than a specified weight for up to 12 weeks) and may prohibit common shoulder joint and shoulder girdle movements. Having observed the negative effects of restrictive sternal precautions for many years, our research team performed a series of studies that measured the forces exerted during various common activities and their relationship to the sternum. The results, though informative, led us to realize that the goal of identifying "the" appropriate load restriction to prescribe for sternotomy patients was futile. The alternative approach that we introduce applies standard kinesiological principles and teaches patients how to perform load-bearing movements in a way that avoids excessive stress to the sternum.

Gender Dysphoria in Adults.

Gender dysphoria (GD), a term that denotes persistent discomfort with one's biologic sex or assigned gender, replaced the diagnosis of gender identity disorder in the Diagnostic and Statistical Manual of Mental Disorders in 2013. Subtypes of GD in adults, defined by sexual orientation and age of onset, have been described; these display different developmental trajectories and prognoses. Prevalence studies conclude that fewer than 1 in 10,000 adult natal males and 1 in 30,000 adult natal females experience GD, but such estimates vary widely. GD in adults is associated with an elevated prevalence of comorbid psychopathology, especially mood disorders, anxiety disorders, and suicidality. Causal mechanisms in GD are incompletely understood, but genetic, neurodevelopmental, and psychosocial factors probably all contribute. Treatment of GD in adults, although largely standardized, is likely to evolve in response to the increasing diversity of persons seeking treatment, demands for greater client autonomy, and improved understanding of the benefits and limitations of current treatment modalities.

Prenatal evaluation of atelencephaly.

Atelencephaly is a rare lethal congenital brain malformation characterized by underdevelopment of the prosencephalon and is often accompanied by the facial features seen in some cases of holoprosencephaly, such as cyclopia. We report a case of atelencephaly in the fetus with characteristic ultrasound findings. In addition, we report the findings on fetal MRI, which have not been previously described in the literature.