DICER1-related Sertoli-Leydig cell tumor and rhabdomyosarcoma: An evolving disease with a challenging clinical course and treatment: A case report.

DICER1 syndrome is a rare genetic disorder predisposing young patients to multiple types of cancer. A 17-year-old woman with a history of mixed Sertoli-Leydig cell tumor and juvenile granulosa cell tumor of the left ovary at age 14 presented with a pelvic mass. She underwent fertility preservation cytoreductive surgery and the pathology showed high-grade sarcoma with rhabdomyosarcomatous differentiation. After the surgery, patient received one cycle of chemotherapy but her disease continued to progress. She therefore underwent total hysterectomy, right salpingo-oophorectomy and hyperthermic intraperitoneal chemotherapy followed by consolidation chemotherapy. Magnetic resonance imaging revealed no evidence of the disease before and after the completion of her chemotherapy. Genetic testing confirmed the DICER1 pathogenic variant. However, she presented again with a recurrence of the disease 6 months later and ultimately died of the disease 11 months after the surgery. Our case demonstrates the challenging management of this rare disease in a young patient and the need for new and effective treatments.

Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome in a young patient presenting with a large uterus: A case report and review of the literature.

Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome is a rare genetic disorder caused by a germline mutation in the fumarate hydratase (FH) gene. It is clinically characterized by cutaneous leiomyomas, uterine leiomyomas and renal cell cancer. A 31-year-old woman presented with severe abdominopelvic pain associated with severe menorrhagia which required a visit to the emergency department. Computed tomography (CT) showed a severe enlargement of the uterus with newly diagnosed fibroids. Magnetic resonance imaging (MRI) confirmed the finding of an enlarged uterus with mild left and moderate right hydronephrosis and hydroureter. The patient tried to manage the pain with oral over-the-counter medications and heat pads without significant relief. She was recommended to proceed with total abdominal hysterectomy and bilateral salpingectomy. She tolerated the procedure well and had an uneventful postoperative recovery. Pathology showed morphologic features, including the staghorn vessels, alveolar edema, eosinophilic cytoplasmic inclusions and prominent nucleoli which are characteristics for FH-deficient leiomyomas. Genetic testing was positive for a pathogenic variant in the FH gene associated with HLRCC. This case highlights the importance of proceeding with genetic testing in patients with personal and family history of leiomyomas and unusual pathology findings. Early identification of the syndrome can lead to appropriate screening for renal cell carcinoma.

Laparoscopic removal of a dermoid cyst in one ovary and an endometrioma in the other: A case report and literature review.

The coexistence of an endometrioma and a dermoid cyst is very uncommon, and there are few case reports of both conditions in the ovaries. A 41-year-old patient presented with left pelvic pain. She was referred with a bilateral pelvic mass. Magnetic resonance imaging (MRI) confirmed a dermoid cyst on the left ovary and an endometrioma on the right side. The patient was taking ibuprofen to relieve pain until the day of surgery. She was advised to proceed with bilateral laparoscopic cystectomy. During the laparoscopic procedure, the inspection showed that ovaries were bilaterally enlarged with cystic appearances. Bilateral ovarian cystectomy was performed in which a left dermoid cyst was removed intact within the ovary followed by a rupture of the endometrioma on the right. The patient tolerated the procedure without any complications. This case of coexistence of endometrioma and dermoid cyst in each ovary, confirmed by MRI due to atypical findings on ultrasound, highlights how efficient removal of both cyst is crucial.

Impact of Crohn's disease during pregnancy on children with attention deficit hyperactivity disorder: A review.

BACKGROUND: Iron deficiency anemia (IDA) is a common complication of inflammatory bowel disease (IBD) in pregnant women. Although studies have shown that certain maternal autoimmune diseases are associated with attention deficit hyperactivity disorder (ADHD) in children, no studies have found a relationship specifically between and IDA in pregnant women with IBD and ADHD in their children. This review aims identify a relationship between maternal Crohn's disease (CD) with IDA and ADHD in children. MATERIALS AND METHODS: A review of existing literature was conducted using PubMed to search for articles on pregnant women with CD and IDA and children with ADHD. The studies included nested case-control studies, cohort studies, cross-sectional studies, case-control studies, and literature reviews published from 2012 to 2021. RESULTS: Among 876 articles generated, 11 studies were chosen for this review. Inclusion criteria consisted of no animal studies, meta-analysis or systematic reviews followed by ADHD related topics and maternal CD and IDA. The findings show that ADHD in progeny may be attributed to maternal CD. Although no studies have shown that IDA in mothers with CD is related to ADHD in offspring, several studies have shown a positive correlation between maternal IDA and ADHD in offspring. Some studies suggest inflammation in IBD during pregnancy can inflame the central nervous system, leading to ADHD in offspring. CONCLUSION: IDA is a prevalent complication in CD, and inadequate iron levels are associated with neurodevelopmental problems, such as ADHD. Iron therapy for pregnant mothers diagnosed with CD is suggested to prevent ADHD in offspring.

Impact of maternal iron deficiency on the auditory functions in the young and adult guinea pig.

OBJECTIVES: The aim of this study was to evaluate the hearing function in the guinea pig offspring at post-natal day (PNd) 24 and PNd84 born from dams suffering from iron deficiency during pregnancy and lactation by using the auditory brainstem response (ABR). METHOD: Female guinea pigs (n = 24 per dietary group) were fed an iron sufficient (IS) diet (114 mg/kg) or an iron deficient (ID) diet (11.7 mg/kg) during the gestation and lactation periods. Pups in both groups were weaned at PNd9 and given the IS diet. The hematocrit level was measured at every trimester of pregnancy and at the day of sacrifice in dams and at PNd24 and PNd84 in pups. The animal body weight was measured on every second day until the day of sacrifice. The ABR was used in pups to measure the hearing threshold using a broad range of stimulus intensities and latency at 100 and 80 dB in response to 2, 4, 8, 16, and 32 kHz tone pips at PNd24 and 84. RESULTS AND DISCUSSION: No significant difference between dietary groups was measured in hearing threshold and absolute latencies in pups at PNd24 and PNd84. Although the ID offspring (n = 16) did not differ in brainstem transmission times (BTTs) at 80 dB compare to the IS siblings (n = 25) at PNd24, they showed significant delayed inter-peak latency (IPL) I-IV at 100 dB suggesting a delayed BTT. At PNd84, the latency of all peaks including IPL I-IV at 80 and 100 dB significantly decreased and was also similar in pups from both dietary groups suggesting a better brain maturation. This is the first study investigating the long-term impact of maternal iron deficiency on the auditory functions in the guinea pig offspring during early development to adulthood.

Increase serum cortisol in young guinea pig offspring in response to maternal iron deficiency.

Iron deficiency (ID) has been reported as a risk factor in the pathology of attention-deficit/hyperactivity disorder, although the mechanisms seem unclear. Previous results from our research group showed that guinea pig offspring born from ID dams were significantly more active in the Open Field Test than the controls. This behavior could potentially be associated to stress. We therefore hypothesized that maternal iron deficiency (MID) elevates the offspring serum cortisol, a biomarker of stress, during childhood and possibly at mature age. Twenty-four female guinea pigs were fed an iron-sufficient (IS) diet (114 mg/kg) or ID diet (11.7 mg/kg) during the gestation and lactation. Pups in both groups were weaned at postnatal day (PNd) 9 and given an IS diet. Hematocrit and serum cortisol levels were measured in dams at every trimester of gestation and in pups at PNd24 and 84. We found no impact of MID on dam's cortisol values. However, our findings indicate that MID increased cortisol secretion in the offspring during childhood, cortisol values being significantly elevated in ID than IS pups at PNd24 (P < .05). During adulthood (PNd84), both groups showed comparable cortisol levels. The elevated cortisol secretion observed in the offspring born from ID mothers during childhood may indicate increased stress reactivity which may have contributed to the higher level of activity when tested in a novel open environment. These findings suggest that MID can potentially act as internal stressor affecting the early development conceivably leading to increased stress levels in the children.