The first reported case of double trisomy 10 and 20 in a product of conception.

BACKGROUND: Double trisomies are rare findings among products of conception and are often lethal to the developing embryo or fetus. METHODS: Here we describe a double trisomy case with symptoms of threatened miscarriage at 9 weeks gestation. Ultrasound revealed an anembryonic pregnancy. Pregnancy was terminated by dilation and curettage at gestational age 11 weeks and 6 days. Histologic examination and chromosome microarray were performed on a formalin-fixed product of conception (POC) sample to identify the cause of the anembryonic pregnancy. RESULTS: Chromosome microarray analysis revealed a female chromosome complement with double trisomies 10 and 20, arr(10,20)x3, consistent with a karyotype of 48,XX,+10,+20. CONCLUSION: To the best of our knowledge, this is the first reported case of double trisomy 10 and 20 in a POC. Due to nonspecific histopathological findings, chromosomal microarray is a powerful tool in identifying and differentiating chromosomal aneuploidies.

Vision Loss as Presenting Symptom in Testicular Cancer: A Morbid Case Report.

Testicular cancer is the most common malignancy in men 20-40 years old and most commonly metastasizes to the lung, liver, and brain. Choroidal metastasis from testicular cancer is exceedingly rare, and only few cases have been described in the literature. We report a patient who presented with painful unilateral vision loss as the initial presenting symptom of metastatic testicular germ cell tumor (GCT). A 22-year-old Latino man presented with a 3-week history of progressive central vision loss and dyschromatopsia, accompanied by intermittent, throbbing ocular, and periocular pain, in the left eye. Associated symptom was remarkable for abdominal pain. Examination of the left eye disclosed light perception vision and a large choroidal mass in the posterior pole involving the optic disk and the macula with associated hemorrhages. Neuroimaging showed a 2.1-cm lesion in the posterior globe of the left eye, and B-scan and A-scan ultrasonography findings were consistent with choroidal metastasis. Systemic workup revealed a mass in the left testicle with metastasis to the retroperitoneum, lungs, and liver. Biopsy of a retroperitoneal lymph node showed a GCT. Visual acuity worsened from light perception to no light perception 5 days following initial presentation. Several cycles of chemotherapy were completed, including salvage therapy; however, these treatments were unsuccessful. While vision loss due to choroidal metastasis as the initial presenting symptom of testicular cancer is rare, clinicians should consider metastatic testicular cancer in the differential diagnoses in patients with choroidal tumors, especially in young men.

5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin.

BACKGROUND: 5-Aminolevulinic acid dehydratase (ALAD) porphyria (ADP) is an ultrarare autosomal recessive disease, with only eight documented cases, all of whom were males. Although classified as an acute hepatic porphyria (AHP), induction of the rate limiting hepatic enzyme 5-aminolevulinic acid synthase-1 (ALAS1) has not been demonstrated, and the marrow may also contribute excess 5-aminolevulinic acid (ALA). Two patients have died and reported follow up for the others is limited, so the natural history of this disease is poorly understood and treatment experience limited. METHODS: We report new molecular findings and update the clinical course and treatment of the sixth reported ADP patient, now 31 years old and the only known case in the Americas, and review published data regarding genotype-phenotype correlation and treatment. RESULTS: Circulating hepatic 5-aminolevulinic acid synthase-1 (ALAS1) mRNA was elevated in this case, as in other AHPs. Gain of function mutation of erythroid specific ALAS2 - an X-linked modifying gene in some other porphyrias - was not found. Seven reported ADP cases had compound heterozygous ALAD mutations resulting in very low residual ALAD activity and symptoms early in life or adolescence. One adult with a germline ALAD mutant allele developed ADP in association with a clonal myeloproliferative disorder, polycythemia vera. CONCLUSIONS: Elevation in circulating hepatic ALAS1 and response to treatment with hemin indicate that the liver is an important source of excess ALA in ADP, although the marrow may also contribute. Intravenous hemin was effective in most reported cases for treatment and prevention of acute attacks of neurological symptoms.

Omega-3 Supplementation Improves Pruritus in Continuous Ambulatory Peritoneal Dialysis Patients: A Crossover Randomized Pilot Clinical Trial.

OBJECTIVE: Pruritus is a prevalent skin condition in end-stage renal disease patients. Omega-3 fatty acids have been shown to reduce pruritus in hemodialysis patients. Our objective was to assess the effect of 3 g/day omega-3 supplementation on pruritus among continuous ambulatory peritoneal dialysis (CAPD) patients. METHODS: In this two-period, two-sequence crossover randomized clinical trial, 40 eligible subjects (CAPD patients who complained of pruritus for more than 8 weeks) were randomized to 3 g of omega-3 (n = 20) or identical placebo capsules (n = 20) for 4 weeks. After a wash-out period of 6 weeks, patients were crossed over to the alternate treatment option. Pruritus intensity was assessed using the visual analog scale (VAS) at baseline, 2-and 4-weeks post-intervention in each study period. Both patients and investigators were blinded to the study protocol. FINDINGS: No significant carry-over effect was detected. The mean pruritus score (VAS) in the omega-3 group compared with placebo group after the first (-3.02 vs. -0.48, P < 0.001) and second (-4.09 vs. -0.43, P < 0.001) intervention periods showed higher significant decrease. CONCLUSION: In summary, omega-3 supplementation is an effective treatment for pruritus alleviation in CAPD patients. Further studies are needed to determine the mechanisms underlying antipruritic effects of omega-3.