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Article Synopsis
  • A 27-year-old woman who was 20 weeks pregnant had swelling and foamy urine but normal blood pressure. Tests showed kidney problems and signs of lupus. She was treated but later developed serious complications and had an emergency C-section to deliver her baby.
  • After the delivery, she faced more major health issues, including the need for dialysis. Doctors tried different treatments, and eventually, one worked well enough for her to recover from her blood problems.
  • Four years later, she had to have both her kidneys removed because of cancer, but she was doing well afterward and was not showing signs of lupus or cancer returning, while also taking some medications for her health.
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Identification of a novel LMX1B nonsense variant associated with congenital talipes equinovarus by prenatal exome sequencing: A case report.

Mol Genet Genomic Med

January 2024

Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.

Article Synopsis
  • Congenital talipes equinovarus (CTEV) is a complex foot deformity influenced by genetic and environmental factors, often linked to disorders like nail-patella syndrome caused by mutations in the LMX1B gene.
  • This study focused on a fetus diagnosed with CTEV via ultrasound, whose father had related symptoms, by analyzing the genetic variants through whole-exome sequencing.
  • A novel harmful variant in the LMX1B gene was identified in both the fetus and father, suggesting a genetic link to the CTEV condition, providing new insights for genetic counseling.
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Anti-phospholipase A2 Receptor Antibody-Negative Membranous Nephropathy in Pregnancy.

Cureus

August 2023

Nephrology, Ohio Valley Nephrology Associates, Owensboro, USA.

Nephrotic syndrome in pregnancy is associated with challenges for both patients and physicians. Early recognition is crucial, and when appropriate, renal biopsy should be considered to differentiate preeclampsia from other causes of glomerulopathies. Pregnancy in a woman with nephrotic syndrome is high risk, and more data are needed to highlight pregnancy outcomes.

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Background: Kidney biopsy is a routine procedure in the diagnosis of kidney disease, but during pregnancy it carries potential adverse effects for both mother and child, aside from the challenges of obtaining adequate tissue samples. Nevertheless, a precise diagnosis is necessary when specific and potentially toxic treatments are to be used during pregnancy. The present report presents our experience with regard to the usefulness and safety of kidney biopsies during pregnancy.

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Long-term Rituximab Therapy in Adult Patients with Idiopathic Nephrotic Syndrome.

Saudi J Kidney Dis Transpl

November 2023

Department of Pathology, Amiri Hospital, Ministry of Health, Kuwait City, Kuwait.

Patients with refractory idiopathic nephrotic syndrome (INS) are at risk of infections, renal failure, and the inherent side effects of immunosuppressive therapy. In the present study, we investigated the efficacy of yearly rituximab therapy in adult patients with this syndrome over 5-10 years. In the minimal change disease group, 14 of the 15 patients had complete remission (CR) and one had partial remission (PR).

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