Unilateral Case, Axenfeld-Rieger Syndrome

Breast cancer metastasizes mainly to organs such as bone, lung, and liver, whereas metastases to the peritoneum and urinary tract are rare. Metastasis to the peritoneum or urinary tract may result in renal dysfunction, infection, and painful hydronephrosis. In our hospital, 1,409 breast cancer surgeries were performed between January 2004 and December 2015, and 7 cases of hydronephrosis associated with recurrence were observed. The median age of patients was 69 years (57–79 years). The median time from surgery to diagnosis of hydronephrosis was 47 months (20–70 months). Histology was invasive ductal carcinoma (IDC) in 6 cases and invasive lobular carcinoma (ILC) in 1 case. There were 6 bilateral cases and 1 unilateral case of hydronephrosis. The causes were retroperitoneal metastasis in 5 cases and lymph node metastasis in 2 cases. The hydronephrosis was untreated in 2 cases, and treated with a ureteral stent in 2 cases, nephrostomy in 1 case, and nephrostomy due to ureteral stent failure in 2 cases. The median survival from the onset of hydronephrosis was 12 months (3–57 months). Although the probability of hydronephrosis in breast cancer recurrence was not high, care must be taken to avoid renal dysfunction, infection, or pain, which may require treatment.

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Loss of FOXC1 contributes to the corneal epithelial fate switch and pathogenesis

Signal Transduction and Targeted Therapy ◽

10.1038/s41392-020-00378-2 ◽

2021 ◽

Vol 6 (1) ◽

Author(s):

Mingsen Li ◽

Liqiong Zhu ◽

Jiafeng Liu ◽

Huaxing Huang ◽

Huizhen Guo ◽

...

Keyword(s):

Epithelial Cells ◽

Corneal Epithelium ◽

Corneal Ulcer ◽

Corneal Epithelial ◽

Ocular Development ◽

Rieger Syndrome ◽

Corneal Ulcers ◽

Epithelial Homeostasis ◽

Forkhead Box ◽

Interferon Regulatory Factor 1

AbstractForkhead box C1 (FOXC1) is required for neural crest and ocular development, and mutations in FOXC1 lead to inherited Axenfeld–Rieger syndrome. Here, we find that FOXC1 and paired box 6 (PAX6) are co-expressed in the human limbus and central corneal epithelium. Deficiency of FOXC1 and alternation in epithelial features occur in patients with corneal ulcers. FOXC1 governs the fate of the corneal epithelium by directly binding to lineage-specific open promoters or enhancers marked by H3K4me2. FOXC1 depletion not only activates the keratinization pathway and reprograms corneal epithelial cells into skin-like epithelial cells, but also disrupts the collagen metabolic process and interferon signaling pathways. Loss of interferon regulatory factor 1 and PAX6 induced by FOXC1 dysfunction is linked to the corneal ulcer. Collectively, our results reveal a FOXC1-mediated regulatory network responsible for corneal epithelial homeostasis and provide a potential therapeutic target for corneal ulcer.

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Umbilical Morphology: Normal Values for Neonatal Periumbilical Skin Length

PEDIATRICS ◽

10.1542/peds.90.1.47 ◽

1992 ◽

Vol 90 (1) ◽

pp. 47-49

Author(s):

Aengus S. O'Marcaigh ◽

Lora B. Folz ◽

Virginia V. Michels

Keyword(s):

Regression Analysis ◽

Birth Weight ◽

Gestational Age ◽

Normal Values ◽

The Other ◽

Male And Female ◽

Rieger Syndrome ◽

Neonatal Diagnosis ◽

Robinow Syndrome ◽

Aarskog Syndrome

Malformations of the umbilicus are a feature of many dysmorphic syndromes including Rieger syndrome, Robinow syndrome, and Aarskog syndrome. The characteristic umbilical malformation in Rieger syndrome consists of redundant periumbilical skin which extends along the cord for an excessive distance. Although the measurement of umbilical skin length plays an important role in the neonatal diagnosis of Rieger syndrome, normal values for this measurement in healthy neonates have not been established. Umbilical skin length was measured in 104 healthy neonates. The length to which the umbilical skin extended along the cranial aspect of cord (mean 11.53 mm, SD 3.58) was significantly longer than the umbilical skin length along the caudal aspect (mean 8.71 mm, SD 2.89) (P < .05). Multiple regression analysis revealed a significant association between age and umbilical skin length. Birth weight, length, and gestational age were not significantly associated with umbilical skin length when adjusted for the other three variables. No significant differences in umbilical skin length were observed between male and female groups. The above normal values should aid in the neonatal diagnosis of Rieger syndrome, and furthermore it is recommended that cranial umbilical skin length measurement be included in the examination of the dysmorphic child.

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