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Breast carcinoma in a patient with neurofibromatosis type 1 and huge plexiform neurofibroma of the contralateral breast: a case report | BMC Women’s Health

by Dr. Michael Lee – Health Editor July 22, 2025
written by Dr. Michael Lee – Health Editor

NF1 and Breast Cancer: Early Detection Crucial for Improved Outcomes

Navigating a Complex Link

Individuals with Neurofibromatosis Type 1 (NF1) face a recognized elevated risk of developing breast cancer. This report details a severe NF1 case where an advanced-stage breast cancer diagnosis occurred due to a lack of adherence to established early detection protocols. While treatment was administered, the situation underscores the critical need for vigilant screening in this patient population.

Treatment Strategies for Aggressive Tumors

In the case presented, a substantial tumor size necessitated neoadjuvant chemotherapy—treatment administered before surgery. This approach proved highly effective, leading to a complete response. Research indicates that the timing of systemic chemotherapy, whether before or after surgery, does not significantly impact long-term results, according to meta-analyses. Preoperative therapy can offer vital prognostic information based on the patient’s response.

While neoadjuvant therapy is commonly employed for HER2-positive and triple-negative breast cancers, it can also be beneficial for select hormone receptor–positive cases, particularly when tumors are large or breast-conserving surgery is a goal. Achieving a pathological complete response (pCR) through neoadjuvant treatment is associated with improved disease-free and overall survival rates.

NF1 and Breast Cancer: A Pattern of Late Diagnosis

Numerous breast malignancy types have been documented in patients with Von Recklinghausen’s disease (NF1). However, much of the existing data comes from individual case reports. A common thread among these cases, including the one discussed, is a tendency for patients to delay seeking medical attention. This often stems from a misidentification of breast tumors as benign manifestations of NF1, such as neurofibromas.

The majority of reported NF1-associated breast cancer cases involve postmenopausal women, typically between the ages of 50 and 75. A comprehensive study involving 142 NF-1 patients with breast cancer revealed a greater incidence of contralateral breast cancer (cancer in the opposite breast) and a shorter survival period for this group.

According to the National Cancer Institute, breast cancer is the most common cancer diagnosed in women, with an estimated 313,530 new cases expected in the U.S. in 2024. For individuals with NF1, proactive screening is paramount to combatting the risks associated with this comorbidity.

Understanding NF1 Genetics

Neurofibromatosis Type 1 is caused by mutations in the NF1 gene, located on chromosome 17q11.2. This gene encodes neurofibromin, a crucial tumor suppressor protein. NF1 is inherited in an autosomal-dominant pattern with complete penetrance but variable expression. Notably, 30% to 50% of individuals with NF1 acquire the germline mutation spontaneously (de novo) during embryogenesis, meaning they have unaffected relatives.

In the current case, genetic testing was not performed due to limited availability and insurance coverage in public hospitals. However, genetic confirmation is not essential for a clinical diagnosis of NF1.

Imaging Discrepancies and Treatment Considerations

A notable variation was observed in this study regarding tumor size measurements between mammography/ultrasound and CT imaging. Such discrepancies can arise from differences in imaging resolution, measurement planes, and tissue contrast. Breast-specific modalities like ultrasound and mammography are generally considered more reliable for initial tumor sizing.

Due to resource limitations, a pre-treatment fine-needle aspiration was not conducted on an enlarged axillary lymph node, preventing definitive confirmation of its status (N1) prior to surgery. Furthermore, the absence of certain pathological tests, such as Ki-67 testing, precluded classification of the tumor into specific molecular subtypes like luminal A or luminal B.

The patient’s initial treatment involved four cycles of chemotherapy. Following a complete pathological response, four additional cycles of paclitaxel were administered as adjuvant therapy. However, current guidelines advocate for the completion of the full standard neoadjuvant chemotherapy course before proceeding with surgery.

Recommendations for Enhanced Care

This case report highlights the intricate relationship between NF1 and breast cancer, emphasizing the critical importance of integrating NF1 patients into national high-risk breast cancer screening programs. Such integration could significantly enhance early detection rates and improve survival outcomes for these individuals.

Expanding access to specialized healthcare services and strengthening surveillance measures for this high-risk population are essential steps that could lead to better prognoses and long-term health for those affected by NF1.

July 22, 2025 0 comments
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Health

Pioneering IVF Technique Reduces Risk of Inherited Mitochondrial Diseases, Offering Hope for Families

by Dr. Michael Lee – Health Editor July 17, 2025
written by Dr. Michael Lee – Health Editor

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July 17, 2025 0 comments
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Health

Content Writing Tips: Improve Your Skills & Productivity

by Dr. Michael Lee – Health Editor July 13, 2025
written by Dr. Michael Lee – Health Editor

A total of 343 patients were included in this study, including 1065 cycles. 69 cycles had been cancelled before egg retrieval. Baseline characteristics of the patients are shown in Table 1.

Table 1 Baseline characteristics

The stimulation protocols and dosages of gonadotropins for each protocols of the 996 egg retrieval cycles are shown in Table 2. A total of 474 embryo transfer procedures were involved. The types of embryos transferred are shown in Table 3. The qualities of embryos transferred are shown in Table 4.

Table 2 The stimulation protocols and dosages of gonadotropins of 996 oocyte retrieval cycles
Table 3 The types of embryos transferred
Table 4 The qualities of embryos transferred

The number of patients who obtained oocyte retrieval operations, the number of patients who obtained live births and the number of patients who failed to obtained live birth but refused to receive further treatment in each cycle were showed in Fig. 1. Considering the small number of patients underwent 9 or more cycles of oocyte retrieval treatment, their information will be merged into one group.

Fig. 1

The number of patients receiving treatment and the number of patients obtained live births

The conservative estimate of CLBR and the optimal estimate of CLBR of the whole population and in different age group are shown in the Fig. 2. The live birth rate of the first oocyte retrieval cycle of the whole study subjects was 9.9%. After one or more cycles of treatments, a total of 141 couples achieved live births during the study period, with a conservative estimate CLBR of 41.1%. Assuming that the final outcome of the patients who did not continue to receive treatment had the same live birth rate with those who continued treatment, the optimistic estimate of CLBR was 81.0%. After calculating by age group, it was found that the older the female patient was, the lower the conservative and optimistic estimates of the CLBRs were. For women aged < 35 and 35 ~ 39, after 6 oocyte retrieval cycles, the conservative/optimistic estimates of CLBRs reached 57.4/82.7% and 41.1/64.8%, respectively. For elderly women ≥ 40 years old, the conservative/optimistic estimates of the CLBRs 6 oocyte retrieval cycles were only 14.7/26.0%.

Fig. 2
Content Writing Tips: Improve Your Skills & Productivity

The conservative and optimal estimates of CLBRs. A. whole population; B.patients age <35 years old; C.patients age 35~39 years old; D.patients age ≥40 years old)

The baseline characteristics, as well as the details regarding oocyte retrieval and embryo transfer, for patients who achieved live birth versus those who did not during the study period are presented in the Table 5. There are statistical differences in age, AMH level, AFC, the history of clinical pregnancy, the history of live birth, the number of oocytes retrieved per cycle, the number of embryo transfer procedure and the accumulative number of embryos transferred are different between the two groups.

Table 5 Baseline characteristics and treatment indicators of the two groups

Logistic regression analysis was performed on 8 variables mentioned before which were statistical difference between the group according to univariate analysis. The multivariate analysis results showed that: age and the number of oocyte retrieved per cycle were significantly associated with live birth outcomes (Table 6). The higher the age is, the lower the live birth rate is. A higher number of oocyte retrieved per cycle indicates a higher rate of live birth.

Table 6 The relevant factor of live birth by the logistic regression

There are 195 patients(dropout group) who discontinued treatments after one or more unsuccessful cycles. A total of 141 patients achieved live births during the study period. There are 7 patients who continued treatment after 9 or more oocyte retrieval cycles although they did not achieved live births yet.

The baseline characteristics, the numbers of oocytes retrieved per cycle of the patients who discontinued treatments and other 148 patients(non-dropout group) during the period are showed in the Table 7. There are statistical differences in age, AMH level, AFC and the number of oocytes retrieved per cycle between the two groups.

Table 7 Baseline characteristics and treatment indicator of the dropout group and the non-dropout group

The patients in dropout group received 512 cycles of oocyte retrieval, of which egg was not retrieved in 88 cycles (17.2%), and there was no transplantable embryo in 196 cycles (38.3%). The patients in non-dropout group received 484 cycles of oocyte retrieval, of which egg was not retrieved in 43 cycles (8.9%), and there was no transplantable embryo in 92 cycles (19.0%). There were significant differences in the proportion of cycles without oocytes and cycles without transplantable embryos between the two groups (P < 0.01, P < 0.01).

Treatment outcomes between different levels of AMH levels and different age groups are showed in the Tables 8 and 9.

Table 8 Treatment outcomes between different levels of AMH levels
Table 9 Treatment outcomes of different age groups
July 13, 2025 0 comments
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World

Symptoms of pelvic floor dysfunctions during pregnancy and postpartum | BMC Pregnancy and Childbirth

by Lucas Fernandez – World Editor July 10, 2025
written by Lucas Fernandez – World Editor

This study monitored the symptoms of Pelvic Floor Dysfunction (PFD) during pregnancy and postpartum using the APFQ, a questionnaire that includes four domains: urinary function, bowel function, prolapse, and sexual function. It evaluates the symptoms and quality of life related to each of them. The relationship between anthropometric variables, obstetric history, and questionnaire scores was also analyzed.

During pregnancy, the growing uterus exerts pressure on the bladder and stresses the pelvic floor muscles. Even after childbirth, it may take time for these muscles to recover and return to normal function. In the postpartum group, analysis of the urinary function domain showed that dysfunction symptoms were most severe up to 6 weeks after birth and improved over time. These results align with a previous study of Brazilian postpartum women, which reported a higher frequency of urinary incontinence (UI) symptoms during pregnancy (47%), followed by a decrease at 30 days (6.3%) and 60 days (6.3%) postpartum[[17].

A positive correlation was found between the number of pregnancies and parity with an increase in the APFQ urinary function score, both during pregnancy and postpartum. This finding supports research by Wessel et al., which showed that the prevalence of UI can reach 58% during pregnancy, 31% in nulliparous women, and 42% in multiparous women[[18]. Furthermore, Milsom et al. had previously identified parity as a risk factor for developing UI in the postpartum period[[3].

Regarding bowel function, while no significant difference was found between pregnancy and postpartum periods, it is notable that the mean score for both groups was above zero, indicating symptoms of bowel dysfunction. Investigating bowel dysfunction during pregnancy and postpartum is crucial. Constipation, for example, is common during these periods and can lead to excessive straining during defecation, increasing the risk of hemorrhoids and anal fissures, which in turn worsens bowel dysfunction[[19]. Other studies have highlighted the link between constipation and the development of urinary incontinence[[20, 21], anal incontinence[[20, 22], and pelvic organ prolapse (POP)[[23].

For postpartum women, a negative correlation was found between age and bowel function score, meaning that older women had fewer symptoms of bowel dysfunction. However, intestinal symptoms related to pregnancy and childbirth may not manifest until decades later, which could affect this analysis[[24].

The study did not find significant differences between pregnancy and postpartum periods in the APFQ prolapse domain. Although POP typically appears with advanced age and after menopause[[25], a recent study quantitatively assessed prolapse using the Pelvic Organ Prolapse Quantification system. It showed that the vaginal walls descend from the second to the third trimester of pregnancy and revealed a positive correlation between genital hiatus and symptoms of POP-related dysfunctions[[26]. The literature on prolapse during pregnancy remains controversial, but given the physiological changes and stresses that pelvic organs undergo during pregnancy and childbirth, early investigation allows for timely diagnosis and interventions, which may prevent progression and improve treatment outcomes.

A positive correlation was found between parity and the worsening of prolapse symptoms in pregnant women. A recent study by Sascha et al. identified an odds ratio of 1.06 for prolapse appearance with increased parity[[27]. With each pregnancy, the uterus enlarges as the baby grows, putting pressure on the pelvic floor. Repeated stress from multiple pregnancies can progressively weaken the pelvic floor support structures.

Regarding sexual function, a significant difference was observed in the pregnant group: sexual dysfunction was more prominent in the first and second trimesters compared to the third trimester. Sexuality is influenced by a combination of physical, hormonal, psychological, and social factors. Besides that, some factors differ in each period of pregnancy, which can also impact sexuality – but not exclusively. In the first and second trimesters, women undergo significant bodily changes, such as breast enlargement, fatigue, and morning sickness, which can decrease libido and sexual interest. Additionally, rapid hormonal fluctuations during the early stages of pregnancy can cause mood swings and reduced sex drive. The discovery of pregnancy may also bring concerns about the baby’s health, changes in the relationship with the partner, and the future as a mother, all of which can negatively affect sexual interest[[28,29,30]. As pregnancy progresses and hormones stabilize, some women may experience an improvement in libido.

Understanding these patterns is essential to provide appropriate and sensitive support to pregnant women, addressing issues related to sexuality throughout pregnancy. While this study found that pregnant women in the third trimester experienced less sexual dysfunction than those in the first and second trimesters, it is noteworthy that only 50% of women in the third trimester were sexually active, compared to 76% in the first and second trimesters. This finding is consistent with research by Yeniel and Petri, who observed a tendency for sexual desire to decrease in the third trimester[[31].

Regarding sexual function postpartum, the study showed that women up to 6 weeks after delivery had fewer sexual dysfunction symptoms compared to those between 7 and 24 weeks and beyond 24 weeks postpartum. Postpartum sexual dysfunction can result from a combination of physical, hormonal, emotional, and social factors. After childbirth, hormone levels fluctuate significantly, with a decrease in estrogen and progesterone, which can affect sexual desire and vaginal lubrication, making intercourse less comfortable[[32]. Caring for a newborn can be physically and mentally demanding, which can reduce interest in sex. If the delivery was traumatic or involved complications, pelvic pain or dyspareunia may develop, which can lower sexual desire and delay the resumption of sexual activity[[18]. However, it is important to note that 51% of women were sexually active up to 6 weeks postpartum, 55% between 7 and 24 weeks, and 67% beyond 24 weeks. These findings align with other studies, which report a resumption of sexual activity occurring, on average, 6 to 8 weeks after childbirth, with a gradual increase in frequency after 6 months[[18, 30].

A negative correlation was also found between age and sexual function score, indicating that older women have fewer symptoms of sexual dysfunction. Although this result pertains to postpartum women, previous studies have shown that mature women tend to have better sexual quality[[33,34,35]. This may be related to greater self-awareness, emotional stability, and improved communication with their partners. Given the complexity of sexuality, further research in this area is needed.

A limitation of this study was the loss of participants during follow-up, particularly in the postpartum period. This can be attributed to the challenges of interviewing patients during this time, which involves physical adjustments, hormonal fluctuations, and emotional challenges for new mothers. The instability of daily routines, coupled with the prioritization of the newborn’s needs, made it difficult to contact patients, even by phone.

Another limitation was the exclusion of other risk factors for PFD symptoms. Some variables, such as the baby’s weight, mode of delivery, and difficulty or duration of labor, were not considered in this study, despite their known association with PFD and the prevalence of related symptoms. Future studies should incorporate these variables.

To our knowledge, this is the first study to monitor PFD during pregnancy and postpartum in Brazilian women. Investigating all aspects of PFD (urinary, bowel, prolapse, and sexual) during these periods is essential to ensure women’s well-being and quality of life. Each PFD domain may require a distinct treatment approach. A comprehensive evaluation facilitates a multidisciplinary approach, involving healthcare providers, physiotherapists, and other specialists, ensuring a personalized and effective treatment plan for each woman.

July 10, 2025 0 comments
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Health

Stillbirth Linked to Higher Long-Term Health Risks for Mothers

by Dr. Michael Lee – Health Editor July 4, 2025
written by Dr. Michael Lee – Health Editor

Okay, I’ve analyzed the provided text. Here’s a summary of the key points and themes discussed, focusing on the relationship between stillbirth and later health outcomes:

Main Argument:

The text argues that stillbirth is associated with an increased risk of developing diabetes, cardiovascular disease (CVD), and possibly increased mortality. It explores potential mechanisms linking these conditions and highlights the importance of considering lifestyle factors and socioeconomic modifiers.

Key Points:

Increased Risk: women with a history of stillbirth may have a higher risk of developing diabetes and CVD later in life. some studies suggest a link between multiple miscarriages and increased diabetes risk.
Underlying Mechanisms:
Glucose Metabolism: Disorders of glucose metabolism may be a common link between stillbirth, diabetes, and CVD. Antiangiogenic status: Stillbirth may be linked to antiangiogenic status, which can increase the risk of CVD.
Nerve Growth Factor (NGF) Deficiency: The text emphasizes the potential role of NGF deficiency. Stillbirth may lead to decreased NGF levels, which can:
Cause apoptosis of pancreatic β-cells, affecting insulin secretion and increasing diabetes risk. Contribute to myocardial cell necrosis and heart failure (HF).
Impair insulin synthesis and secretion function,a decrease in the number of islet beta cells,and the destruction of the islet structure,which triggers or exacerbates the development of diabetes.
Emotional and Lifestyle Factors:
psychological Impact: Stillbirth can cause significant psychological distress (anxiety, stress, acute stress disorder), leading to unhealthy behaviors (altered eating habits, overweight).
Chronic Stress: Repeated stress exposure can lead to chronic stress, disturbances in glucose metabolism, neuroendocrine disorders, and a prolonged low-grade inflammatory response.
Depression: Depression is strongly associated with the development of diabetes and CVD.
Socioeconomic Factors:
Income: Higher income may reduce the risk of cardiovascular death and all-cause death associated with stillbirth through a variety of mechanisms, including access to health care, stress management, and healthy behaviors.
Need for Further Research: The text emphasizes the need for more research to understand the complex relationship between stillbirth and long-term health outcomes, particularly considering lifestyle and socioeconomic factors.

Implications:

Targeted Screening and prevention: Women with a history of stillbirth may benefit from targeted screening and prevention strategies for diabetes and CVD.
Addressing Psychological Well-being: addressing the psychological impact of stillbirth is crucial,as stress and depression can contribute to adverse health outcomes.
Considering Socioeconomic Factors: Interventions should consider socioeconomic factors to reduce health disparities among women affected by stillbirth.

In essence,the text presents a compelling argument for considering stillbirth as a potential risk factor for later-life metabolic and cardiovascular health,highlighting the need for a holistic approach that addresses biological,psychological,and socioeconomic factors.

July 4, 2025 0 comments
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Health

Infertility: How Inflammation, Diet & Metabolism Impact Women’s Fertility

by Dr. Michael Lee – Health Editor June 25, 2025
written by Dr. Michael Lee – Health Editor

Here’s a breakdown of the provided text, focusing on key points and potential implications:

Main Topics Discussed:

Systemic Immune-Inflammation Index (SII) and Infertility: The text highlights the association between elevated SII and increased risk of infertility in women of childbearing age. It explains how the components of SII (neutrophils, platelets, and lymphocytes) can contribute to infertility.
Obesity, Nutrient Intake, and Infertility: The text emphasizes the link between obesity (BMI ≥ 25 kg/m²) and excess nutrient intake (NRI ≥ 115.04) with infertility in reproductive-aged women, particularly in developed countries. It details the mechanisms by which obesity disrupts the hypothalamic-pituitary-ovarian (HPO) axis, affecting hormone levels, ovarian function, and ultimately, fertility.
Impact of Obesity on Assisted Reproductive Technology (ART): The text mentions that obesity can hinder the success of ART, leading to lower pregnancy rates following in vitro fertilization (IVF).

Key Arguments and Findings:

elevated SII as a Risk Factor: The study demonstrates that an elevated SII increases the risk of infertility in women of childbearing age.
Obesity and nutrient Excess as Risk Factors: BMI ≥ 25 kg/m² and NRI ≥ 115.04 are identified as risk factors for infertility among reproductive-aged women in the United States.
Mechanisms of Obesity-Related Infertility: The text explains how obesity disrupts the HPO axis,leading to hormonal imbalances,altered ovarian function,and reduced embryo growth.
Obesity’s Impact on ART Outcomes: Obesity negatively affects the responsiveness of the ovaries to gonadotropins, requiring higher doses of hormones for follicular development and resulting in longer treatment cycles.

Implications:

Clinical Significance: The findings suggest that SII,BMI,and NRI could be potential markers for assessing infertility risk in women.
Public Health: The text underscores the importance of addressing obesity and promoting healthy nutrient intake to improve reproductive health.
Research directions: Further research is needed to fully understand the complex interplay between inflammation, obesity, and infertility, and to develop targeted interventions.

the text provides evidence supporting the association between inflammation (as measured by SII), obesity, nutrient excess, and female infertility. It highlights the importance of considering these factors in the diagnosis and management of infertility.

June 25, 2025 0 comments
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