Publications by authors named "Nicolas Kalfa"
Article Synopsis
- * Conducted at Montpellier University Hospital, it involved 80 fetuses during third-trimester ultrasounds, confirming a normal vessel position in 96.2% of cases, with perfect agreement between prenatal and neonatal scans for 74 babies.
- * The findings suggest that prenatal ultrasound is effective for assessing SMA and SMV positions, and for cases of abnormal positioning, further imaging (like MRI) is recommended to check for potential intestinal malrotation.
Article Synopsis
- The management of Differences of Sex Development (DSD) has changed significantly, with a growing need to understand the outcomes of early treatment through long-term studies.
- Current limitations in research include small sample sizes, lack of standard methods, outdated treatment evaluations, and absence of prospective comparative studies.
- Key recommendations for improving follow-up care for DSD patients include establishing a multidisciplinary team, facilitating smooth transitions to adulthood, focusing on psychological support, maintaining clear communication, and using standardized data collection.
Article Synopsis
- Animal experimentation in Pediatric Urology requires understanding physiological differences between species and selecting appropriate disease models instead of just healthy animals.
- Diseased models can better simulate human pathologies, especially for conditions like congenital malformations and effects of prenatal factors.
- Properly formulating research questions is essential before choosing the right animal models and species for these studies.
Article Synopsis
- The relevance of animal experimentation hinges on the specific research question being explored.
- It is crucial to carefully formulate the research question before selecting an appropriate animal species for experimentation.
- Understanding the anatomical and physiological differences and similarities among species can enhance the likelihood of obtaining useful data for human applications.
Article Synopsis
- The study examines the impact of COVID-19 lockdowns on preterm birth (PTB) rates and birth weight in France, finding that PTB rates decreased from 7.7% to 7.3% after the lockdown, persisting for several months.
- Data from nearly 3 million births from 2016 to 2020 showed an increase in mean birth weight for full-term infants and a reduction in low birth weight categories following the lockdown.
- The findings suggest that socioenvironmental and lifestyle factors during the lockdown may have contributed to these changes, indicating the need for more research to understand these influences on PTB prevention.
Article Synopsis
- Endoscopic injection (EI) has emerged over the last 20 years as a less invasive alternative to open surgery for treating pediatric vesicoureteral reflux (VUR), showing success rates comparable to traditional methods.
- The study discusses various factors affecting EI success, including the use of different bulking agents like Deflux and Vantris, and techniques such as STING and HIT.
- While both materials have their pros and cons, the optimal choice of material and injection technique ultimately relies on the surgeon's experience and preferences.
Article Synopsis
- Diethylstilbestrol (DES) is a synthetic estrogen linked to adverse health effects in mothers, their children, and grandchildren due to its ability to cross the placenta and disrupt endocrine function.
- A nationwide observational study analyzed data from 529 families of DES-treated women, focusing on pregnancy outcomes and birth weight variations across multiple generations.
- Results showed that preterm birth rates increased significantly in children exposed to DES, but those born post-DES had a higher average birth weight compared to pre-DES neonates, with some slight increases in low birth weight among grandchildren of DES-exposed women.
Article Synopsis
- The study analyzed changes in the diagnosis and management of patients with two types of genetic deficiencies (SRD5A2 and HSD17B3) from 1994 to 2020, focusing on current diagnostic practices.
- Out of 52 patients, over half were diagnosed at birth, with a trend showing earlier diagnoses for those born after 2007, and a notable shift in initial sex assignment from predominantly female to increasingly male.
- Genetic testing revealed a variety of mutations in both genes, and the study concluded that there’s been a significant change in clinical approaches and therapeutic interventions based on evolving understanding of these conditions.
Article Synopsis
- Long gap esophageal atresia (EA) presents significant challenges for pediatric surgeons compared to non-long gap EA/tracheo-esophageal fistula (TEF), particularly in terms of patient outcomes at ages 1 and 6.
- A study analyzed data from patients who underwent EA surgery in France, finding that those with long gap EA experienced more complications, longer hospital stays, and increased reliance on parenteral nutrition during the first year of life.
- At the 6-year mark, patients with long gap EA had more digestive issues, although they showed less spine deformation, with no major differences in outcomes between initial treatment approaches of delayed primary anastomosis or esophageal replacement.
Article Synopsis
- - The study assessed long-term functional outcomes of children aged 6-30 who had surgery for anorectal malformations (ARMs) in various expert centers in France.
- - Findings from 367 patients indicated a significant correlation between the rectal pouch position and issues like voluntary bowel movements and soiling, as well as an increased risk of constipation linked to certain anatomical factors and surgical approaches.
- - The study emphasizes the importance of ongoing follow-up for these patients to address their specific needs and improve their functional outcomes over time.
Article Synopsis
- The COVID-19 pandemic led to significant reductions in pediatric urology services, resulting in increased waiting lists and surgical activity declines across European healthcare centers.
- A one-year study tracked changes in waiting lists and surgical capacity, revealing an 11% rise in waiting list patients and a 73% increase in average waiting days by the end of the study period.
- The impact of COVID-19 on pediatric urology services varied significantly between centers, highlighting the importance of resource management and ongoing monitoring to protect the healthcare needs of children.
Prenatal Exposure to Diethylstilbestrol and Multigenerational Psychiatric Disorders: An Informative Family.
Int J Environ Res Public Health
September 2021
Article Synopsis
- The study explores the psychiatric disorders present in children and grandchildren of mothers who were exposed to diethylstilbestrol (DES) during pregnancy, revealing a significant prevalence of such disorders across multiple generations.
- In a family examined, nearly all second-generation children (9 out of 10) exhibited psychiatric issues such as bipolar disorder and eating disorders, while a notable percentage of third-generation grandchildren (10 out of 19) also displayed various psychiatric conditions.
- The findings suggest that in utero exposure to DES may play a role in the development of psychiatric disorders, indicating potential multigenerational and transgenerational impacts on mental health.
Article Synopsis
- The discovery of DNA is one of the most significant scientific advancements in history, greatly impacting our understanding of human health.
- Advances in DNA sequencing technologies offer new insights into the causes and treatments of various health conditions, including genetic disorders and cancers.
- The article discusses how these sequencing technologies could potentially transform the healthcare industry by providing critical information for better medical care.
Article Synopsis
- Endometriosis affects 10-15% of reproductive-age women and may be driven by environmental factors like exposure to estrogen-like endocrine-disrupting chemicals (EDCs).
- In a case study, all daughters and granddaughters exposed to the drug DES during pregnancy developed endometriosis, while the unexposed individuals showed no gynecological issues.
- The findings suggest a potential link between fetal exposure to DES and the development of endometriosis across generations, emphasizing the possible transgenerational impact of EDCs.
Previous studies have demonstrated that endocrine disruptors (EDs) can promote the transgenerational inheritance of disease susceptibility. Among the many existing EDs, 2,3,7,8-tetrachlordibenzo-p-dioxin (TCDD) affects reproductive health, including in humans, following direct occupational exposure or environmental disasters, for instance the Agent Orange sprayed during the Vietnam War. Conversely, few studies have focused on TCDD multigenerational and transgenerational effects on human reproductive health, despite the high amount of evidence in animal models of such effects on male and female reproductive health that mimic human reproductive system disorders.
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- This paper examines how environmental factors, particularly endocrine-disrupting chemicals (EDCs), impact penile development in humans, specifically in relation to conditions like hypospadias and micropenis in male infants.
- It discusses the origins of these concerns, including epidemiological data and animal studies that led to the testis dysgenesis syndrome (TDS) hypothesis, which suggests a link between EDCs and these developmental issues.
- The review highlights various sources of EDC exposure, such as maternal diet, pesticides, and plasticizers, and emphasizes the potential for cumulative and transgenerational effects on public health.
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Article Synopsis
- Smooth Muscle Cells (SMCs) can change their behavior and functionality, switching between a relaxed state and a more active, proliferative state, which can be linked to dysfunction.
- In a study of infants with chronic intestinal pseudo-obstruction (CIPO), it was found that SMCs had reduced contractile markers and increased levels of a receptor called PDGFRA, indicating a shift towards a less differentiated state.
- Understanding this phenotypic change in CIPO-SMCs could lead to new therapeutic strategies aimed at encouraging these cells to differentiate properly and improve gut motility.
Article Synopsis
- Next-generation sequencing (NGS) is becoming increasingly important in diagnosing disorders of sex development (DSD), but its use in patients with hypospadias specifically remains limited.
- A study involving 293 children with varying degrees of hypospadias found that 5.5% had likely pathogenic variants linked to DSD, with more severe cases showing a higher rate of these variants.
- The findings suggest that even less severe cases of hypospadias can benefit from NGS, highlighting the potential for early molecular diagnosis to uncover undiagnosed syndromes or rare gene variants that might contribute to the condition.
Diethylstilbestrol exposure during pregnancy with primary clear cell carcinoma of the cervix in an 8-year-old granddaughter: a multigenerational effect of endocrine disruptors?
Laura Gaspari Françoise Paris Nathalie Cassel-Knipping Julia Villeret Arnauld Verschuur Nicolas Kalfa
Hum Reprod
January 2021
Article Synopsis
- Vaginal/cervical clear cell adenocarcinoma (CCAC) has not previously been reported in granddaughters of women treated with diethylstilbestrol (DES) during pregnancy.
- An 8-year-old girl diagnosed with cervical CCAC underwent fertility-sparing surgery and radiotherapy, with no recurrence noted after 10 years.
- While a direct causal link hasn't been established, this case suggests potential multigenerational effects of DES and highlights the importance of monitoring granddaughters of DES-treated women.
Objective: To determine which patients should benefit from the interposition of a well-vascularized flap between the neourethra and the penile skin and if it should be performed even in mild hypospadias.
Patients And Methods: A retrospective study on patients with a primary hypospadias repair was performed (2003-2017). Only patients undergoing urethroplasty based on the principle of a tubularization were selected to ensure comparable groups.