Postaxial polydactyly: A case report highlighting genetic context, epidemiological trends, and management options.

This case report examines a newborn with bilateral postaxial polydactyly type B, delivered by a 42-year-old mother with a history of third-degree consanguinity. The mother, having had no prior live births and one abortion, presented at 39 weeks gestation. The absence of prenatal care is noted, with its potential impact on prenatal diagnosis not assessed. The newborn, a healthy girl, weighed 3400 g with an Apgar score of 9/10. Radiographic and physical examination revealed vestigial sixth digits with rudimentary phalanges, influencing the surgical approach. This report underscores the importance of genetic counseling in cases of consanguinity and illustrates the multidisciplinary strategy necessary for managing polydactyly, from surgical considerations to genetic evaluation.

In-hospital neonatal mortality and the role of consanguinity.

BACKGROUND: Consanguinity which increases the risk of genetic disorders has been implicated at times in infant mortality. The aim of this study was to determine the association between consanguinity and in-hospital mortality in newborns. METHODS: Data was collected prospectively on all births from 26 hospitals in Lebanon from January 2004 to December 2008 and admitted to the National Collaborative Perinatal Neonatal Network. Secondary analysis was done on 65,402 singletons, after exclusion of stillbirths, infants of multiple gestation and infants of second cousin progeny. RESULTS: In-hospital mortality was 6.7 per 1000 live births (439/65,402). The rate of first cousin marriage was 9.9%. Consanguinity was significantly associated with in-hospital mortality (odds ratio 2.4; 95% confidence interval (CI): 1.8, 3.1); consanguinity remained a significant predictor of mortality (odds ratio 1.8 [95% CI: 1.2, 2.9]) after adjusting for maternal age and education, crowding index, history of abortion, prenatal care, mode of delivery, gender, birthweight and apgar score at 5 minutes. CONCLUSIONS: This association of consanguinity with in-hospital mortality points to potential genetic factors leading to this increased risk. Designing public health interventions, including raising the awareness and taking into consideration such risks in neonatal mortality studies are indicated.

Primary care and pulmonary physicians' knowledge and practice concerning screening for lung cancer in Lebanon, a middle-income country.

BACKGROUND: Screening for lung cancer with low-dose computed tomography (LDCT) was shown to reduce lung cancer incidence and overall mortality, and it has been recently included in international guidelines. Despite the rising burden of lung cancer in low and middle-income countries (LMICs) such as Lebanon, little is known about what primary care physicians or pulmonologists know and think about LDCT as a screening procedure for lung cancer, and if they recommend it. OBJECTIVES: Evaluate the knowledge about LDCT and implementation of international guidelines for lung cancer screening among Lebanese primary care physicians (PCPs) and pulmonary specialists. METHODOLOGY: PCPs and PUs based in Lebanon were surveyed concerning knowledge and practices related to lung cancer screening by self-administered paper questionnaires. RESULTS: 73.8% of PCPs and 60.7% of pulmonary specialists recognized LDCT as an effective tool for lung cancer screening, with 63.6% of PCPs and 71% of pulmonary specialists having used it for screening. However, only 23.4% of PCPs and 14.5% of pulmonary specialists recognized the eligibility criteria for screening. Chest X-ray was recognized as ineffective by only 55.8% of PCPs and 40.7% of pulmonary specialists; indeed, 30.2% of PCPs and 46% of pulmonary specialists continue using it for screening. The majority have initiated a discussion about the risks and benefits of lung cancer screening. CONCLUSION: PCPs and pulmonary specialists are initiating discussions and ordering LDCT for lung cancer screening. However, a significant proportion of both specialties are still using a non-recommended screening tool (chest x-ray); only few PCPs and pulmonary specialists recognized the population at risk for which screening is recommended. Targeted provider education is needed to close the knowledge gap and promote proper implementation of guidelines for lung cancer screening.

COVID-19 associated respiratory failure complicating a pericardial effusion in a patient with sideroblastic anemia.

BACKGROUND: COVID-19 disease has been associated with several cardiovascular complications that rarely occur in the acute phase of the disease. CASE REPORT: A 13-year-old pediatric patient with congenital sideroblastic anemia associated with YARS2 mutation presenting with COVID-19 infection and worsening pericardial effusion followed by a respiratory failure refractory to supplemental oxygen therapy leading to cardiac arrest. DISCUSSION: This case highlights the rapid deterioration that can occur in children with serious hematologic disorders in the context of COVID-19 especially when complicated with pericardial effusion. CONCLUSION: The importance of pericardiocentesis early in order to allow better ventilation in any significant pericardial effusion case associated with COVID-19 infection and the need for prompt care escalation to centers where ECMO is available.

End-Stage Respiratory Failure Secondary to Bronchiolitis Obliterans Syndrome Induced by Toxic Epidermal Necrosis, Also Known as Lyell Syndrome: A Case Report.

BACKGROUND: Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare but serious dermatologic diseases. They can be associated with systemic manifestations such as bronchiolitis obliterans syndrome (BOS). SJS/TEN-induced BOS is associated with a poor prognosis, and no guidelines exist regarding its management. Several case reports have described the association between SJS/TEN and BOS, with few patients undergoing lung transplantation as a last resort therapy. Unfortunately, in the published reports, none of the transplanted patients were observed for a long period of time after the transplantation; therefore, the long-term mortality as well as the risk of recurrence of BOS could not be inferred from these reports. CASE REPORT: We present the case of a young patient diagnosed with SJS complicated by BOS and end-stage respiratory failure refractory to corticosteroid therapy. She underwent bilateral lung transplantation with an outstanding outcome at 5-year follow-up. CONCLUSION: SJS/TEN-induced BOS might have a favorable evolution and long-term outcomes following lung transplantation. However, prospective studies are needed to confirm this finding.

Impact of the Conditioning Regimen Dose Intensity Before Autologous Stem Cell Transplantation on the Pulmonary Function Test Abnormalities in Patients With Lymphoma and Multiple Myeloma: Single Center Experience.

BACKGROUND: Most studies addressing the impact of hematopoietic stem cell transplantation (SCT) on pulmonary function test (PFT), and the various factors affecting that impact have been performed on the allogenic type. Few have addressed PFT changes in autologous SCT. This study describes PFT changes seen in autologous SCT recipients and addresses the various factors impacting these changes. PATIENTS AND METHODS: We reviewed the medical records of 223 consecutive adult autologous SCT recipients. We collected pre-transplant and post-transplant data, as well as PFT data and long-term mortality. RESULTS: A total of 123 patients with lymphoma receiving the BEAM (carmustine, etoposide, aracytin, and melphalan) conditioning regimen had a significant 5% drop in mean forced vital capacity and total lung capacity but no significant change in forced expiratory volume in one second/forced vital capacity ratio nor in diffusion lung capacity of carbon monoxide adjusted to volume. Fifteen percent of the patients with lymphoma had a clinically significant drop of 15% in their lung volume parameters. The patients with multiple myeloma receiving the melphalan conditioning regimen had no significant change in any of the PFT parameters. Smoking, baseline PFT parameters, and radiation did not affect lung function or mortality. CONCLUSIONS: Autologous SCT impact on lung function depends on the disease and conditioning regimen. It leads to a drop in lung volumes but no obstruction or decrease in diffusion in patients with lymphoma receiving the BEAM regimen. Autologous SCT did not affect lung functions in patients with multiple myeloma, and these patients may not need screening PFTs.

Use of extensively hydrolysed formula for refeeding neonates postnecrotising enterocolitis: a nationwide survey-based, cross-sectional study.

OBJECTIVE: To evaluate the prevalence of and reasons for using extensively hydrolysed formulas (EHFs) of cow's milk proteins in the French neonatal units as well as the modality of their prescription for refeeding infants recovering from necrotising enterocolitis (NEC). METHODS: A multicentre nationwide cross-sectional study using a questionnaire to address the prevalence of use and the reasons for prescribing EHF in hospitalised neonates and to examine the protocols and the actual reasons for their use for refeeding infants in recovery from NEC. The questionnaire was sent to only 1 senior neonatologist in each neonatal unit included in the study. RESULTS: More than half of the French neonatal units participated in the survey. 91% of the surveyed units used EHF. Of 1969 infants hospitalised on the day the survey was run, 12% were fed on an EHF. 11% of the EHF prescriptions were due to previous NEC. The main reasons for using an EHF to feed infants post-NEC were the absence of human milk (75%) and surgical management of NEC (17%). When given, EHF was mainly prescribed for a period varying between 15 days and 3 months. None of the involved units continued using the EHF after 6 months of age. More than half of the surveyed units acknowledged hospitalising infants for the initiation of weaning EHF but only 21% of them tested these infants for cow's milk allergy. CONCLUSIONS: The prevalence of EHF use in the French neonatal units is high. Refeeding infants post-NEC is one of the main reasons for such a high prevalence. The main incentive for using an EHF is the absence of human breast milk, either maternal or donor.