Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) Presenting with Genu Valgum Deformity: Treatment with Phosphate Supplementation and Surgical Correction

We describe a case of hereditary hypophosphatemic rickets with hypercalciuria (HHRH) in a 32-year-old female with short stature, chronic pathologic genu valgum deformity, and knee pain who was referred to endocrinology clinic after previous inconclusive workups. We present imaging spanning 10 years of untreated disease. Biochemical studies showed hypophosphatemia with undetectable fibroblast growth factor 23 (FGF23.) Renal ultrasound revealed bilateral medullary nephrocalcinosis despite no apparent hypercalciuria. Due to concern for HHRH, genetic testing was performed that determined this patient to be homozygous in the SLC34A3 gene for a previously described missense variant (c.1402C \u3e T, p.Arg468Trp). There was no known family history of rickets. A bone biopsy with metabolic studies was performed for diagnostic and prognostic reasons. The histopathological findings along with tetracycline uptake studies were consistent with a diagnosis of HHRH. Treatment with phosphorous supplementation and surgical correction of her valgum deformity resulted in resolution of pain, but no change in bone histomorphometry

GW150914: First search for the electromagnetic counterpart of a gravitational-wave event by the TOROS collaboration

We present the results of the optical follow-up conducted by the TOROS collaboration of the first gravitational-wave event GW150914. We conducted unfiltered CCD observations (0.35-1 micron) with the 1.5-m telescope at Bosque Alegre starting ~2.5 days after the alarm. Given our limited field of view (~100 square arcmin), we targeted 14 nearby galaxies that were observable from the site and were located within the area of higher localization probability. We analyzed the observations using two independent implementations of difference-imaging algorithms, followed by a Random-Forest-based algorithm to discriminate between real and bogus transients. We did not find any bona fide transient event in the surveyed area down to a 5-sigma limiting magnitude of r=21.7 mag (AB). Our result is consistent with the LIGO detection of a binary black hole merger, for which no electromagnetic counterparts are expected, and with the expected rates of other astrophysical transients.Comment: ApJ Letters, in pres

Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) Presenting with Genu Valgum Deformity: Treatment with Phosphate Supplementation and Surgical Correction

We describe a case of hereditary hypophosphatemic rickets with hypercalciuria (HHRH) in a 32-year-old female with short stature, chronic pathologic genu valgum deformity, and knee pain who was referred to endocrinology clinic after previous inconclusive workups. We present imaging spanning 10 years of untreated disease. Biochemical studies showed hypophosphatemia with undetectable fibroblast growth factor 23 (FGF23.) Renal ultrasound revealed bilateral medullary nephrocalcinosis despite no apparent hypercalciuria. Due to concern for HHRH, genetic testing was performed that determined this patient to be homozygous in the SLC34A3 gene for a previously described missense variant (c.1402C > T, p.Arg468Trp). There was no known family history of rickets. A bone biopsy with metabolic studies was performed for diagnostic and prognostic reasons. The histopathological findings along with tetracycline uptake studies were consistent with a diagnosis of HHRH. Treatment with phosphorous supplementation and surgical correction of her valgum deformity resulted in resolution of pain, but no change in bone histomorphometry

Benign Neurofibroma/Schwannoma Hybrid Peripheral Nerve Sheath Tumor of the Ulnar Nerve Harboring a Metastatic Papillary Thyroid Carcinoma Deposit: A Case Report of Tumor-to-Tumor Metastasis

A 74-year-old man with a medical history significant for papillary thyroid cancer (PTC) presented with a rapidly enlarging grape-sized mass in his right medial arm with paresthesia in the ulnar nerve distribution. Imaging was suspicious for a peripheral nerve sheath tumor (PNST), but an ultrasound-guided biopsy was equivocal. The mass was excised with final histopathology demonstrating a benign neurofibroma/schwannoma hybrid nerve sheath tumor (N/S HNST) harboring a metastatic PTC deposit, ultimately mimicking the rare glandular schwannoma subtype. Next-generation sequencing (NGS) of the lesion demonstrated somatic variants in BRAF and TERT (common in PTC) and NF2 (common in PNSTs). After excision, the patient’s nerve symptoms improved. A postsurgical PET/CT scan also showed progression in the lungs/mediastinum. Due to the metastatic nature of his PTC, he was treated with 14 mg of Lenvima (lenvatinib) daily, and his PET/CT surveillance was performed at more frequent intervals. Tumor-to-tumor metastasis (TTM) is a rare occurrence. To our knowledge, this is the first case reported on PTC metastasizing into a benign (hybrid) PNST, which mimicked glandular schwannoma. Symptomatology, imaging characteristics, NGS, and histopathological characteristics that can decipher between different benign PNST subtypes (schwannoma, neurofibroma, glandular, hybrid, etc.), malignant PNSTs (MPNSTs), and TTM are described

Effectiveness of biologic therapy on disease activity in ankylosing spondylitis: a BIOBADASER III observational study

Background The advent of biologic therapy (BT) in ankylosing spondylitis (AS) has substantially benefited patients with inadequate response to conventional therapy. However, it is known patients with inadequeate response to a 1st BT have worse response to 2nd and further lines. Objectives To analyze the effectiveness of BT in biologic-naïve and biologic-experienced real-world AS patients, measuring response through change in activity indexes (ASDAS-CRP and BASDAI) and percentage of low activity and inactive disease at 12 months. Methods Data were obtained from BIOBADASER III, an ongoing observational longitudinal multicenter cohort of patients with rheumatic diseases treated with BT or targeted synthetic DMARDs. Patients were divided into 2 groups, according to their state before entering the study: BT-naïve (BTn) receiving their 1st BT, and BT-experienced (BTe) receiving their 2nd or further BT; regardless of the specific drug they received. Disease activity indexes (DAI) were collected at baseline and after 12 months of BT; mean and SD was calculated for each group and interpreted according to ASDAS disease activity states and, since not established, analogous categories previously used for BASDAI (<2 inactive, ≥2 <4 low, ≥4 <6 high, ≥6 very high)1. Clinical response was assessed by ASDAS improvement cut-offs (≥1.1 clinically important improvement (CII), ≥2 major improvement (MI)) and BASDAI CII (≥1.1)2, BASDAI change (Δ) ≥2 or BASDAI50. Results 846 patients, (29.3% women, mean age 47.6 years) were included, 422 BTn and 424 BTe. Mean DAI results (table 1): at baseline, AS had high disease activity by BASDAI (>4) and ASDAS (>2.1 to 1.3 to <2.1), reaching BASDAI CII; ΔBASDAI≥2 was only achieved in BTn. No group reached BASDAI50. ASDAS CII was reached in all groups, but MI was not seen. Percentage of patients achieving low disease activity and inactive disease are summarized at table 2, being overall higher for the BTn compared to the BTe group. Conclusion The mean disease activity on patients starting biologic therapy is high. A clinically important improvement is met after 12 months of therapy, irrespectively of the index used or the prior use of biologics. The delta in DAI is bigger in the biologic-naïve group who receive the 1st BT. The biologic-naïve group also reaches a higher percentage of low disease activity and inactive disease. Further analysis is needed to see if these tendencies remain after separating the groups per type of biologic drug