Multiple Nevoid Hypertrichosis as An Isolated Developmental Defect

Abstract:   A 3-year-old girl presented with longer hair on the left side of her scalp, coarse hair of abnormal length on her extremities, and a tuft of hair in the lumbosacral region, with all hair distributed on normally pigmented skin. Neither similar or relevant family history nor associated extracutaneous abnormalities was detected after a thorough examination. Clinical diagnosis of patchy nevoid hypetrichosis was confirmed by histology. Nevoid hypertrichosis is a rare hair growth disorder that usually presents at or soon after birth. It is characterized by patches of hypertrichosis distributed in a segmental pattern. It may be accompanied by mental, ocular, or myoskeletal abnormalities. Cases of nevoid hypertrichosis with multiple patches presenting as a solitary developmental defect have been rarely described in the literature.     

Influence of 5-Fluorouracil on Serum Lipids

The effect of the cytotoxic drug 5-fluorouracil (5-FU) on plasma lipid levels was studied in patients and animals. Seven patients with metastatic carcinoma of the colon and three with advanced breast cancer were treated with 5-FU monotherapy by i.v. push at a dose of 500 mg/m²/d for 3-5 consecutive days. The animal group comprised 9 rabbits treated with 5-FU by i.v. push at 12-18 mg/kg/d for 2 consecutive days. Measurements of serum lipid levels were performed before and 2 and 4 weeks after 5-FU administration. No obvious change of diet, body weight and bowel habits occurred during the study period. A significant reduction of total plasma cholesterol was observed in both patients and animals. The triglyceride levels were also reduced in the rabbits. Maximal cholesterol-lowering effect was observed in patients and rabbits with higher baseline cholesterol levels. The results suggest that 5-FU might interfere with lipid metabolism.     

Preoperative pulmonary evaluation (PPE) as a prognostic factor in patients undergoing upper abdominal surgery

BACKGROUND/AIMS: Upper abdominal operations are relatively high risk for postoperative pulmonary complications. The influences of general anesthesia and an operative procedure are well known to negatively impact pulmonary gas exchange. For this reason, the preoperative pulmonary evaluation (PPE) should emphasize risk factors for pulmonary complications. The prediction of these complications is still an under-investigated field. The aim of this study is to identify risk indicators for pulmonary complications after elective upper abdominal operations. METHODOLOGY: A standardized PPE was performed on 28 patients (mean age 53 years) who were admitted to the Intensive Care Unit (ICU) of the Hospital of Athens after scheduled extensive upper abdominal surgery. The PPE included physical examination, medical history, smoking history and general laboratory tests including chest X-ray, and arterial blood gases and spirometry. The type of surgical operation and duration of anesthesia were also evaluated. Postoperatively, data was collected on the occurrence of a symptomatic and clinically significant pulmonary complication. RESULTS: All 28 patients (57.2% female, 42.8% male) needed mechanical ventilator (MV) support after surgery because of respiratory failure and the mean time of MV was 4 +/- 2 days. During this period, 6 (21.4%) patients developed nosocomial pneumonia, 3 (10.7%) developed acute respiratory distress syndrome (ARDS), 2 (6.1%) had a small atelectasis and 4 (14.2%) developed bleeding disorders. Eventually, 2 (7.1%) of the patients with ARDS developed sepsis and died during hospitalization in ICU. All patients who developed complications had a medical history of mild COPD, chronic obstructive pulmonary disease (COPD), a smoking history, were operated on for underlying malignancies and also had abnormal preoperative laboratory results. CONCLUSIONS: Pulmonary complications have enormous implications for the patient and the health care system. The first step in reducing postoperative complications is to identify which patients are at increased risk. PPE is the better way to select clinical and laboratory factors that allow risk stratification for postoperative pulmonary complications after upper abdominal surgery.     

Long‐term outcomes of primary systemic light chain (AL) amyloidosis in patients treated upfront with bortezomib or lenalidomide and the importance of risk adapted strategies

Bortezomib and lenalidomide are increasingly used in patients with AL amyloidosis, but long term data on their use as primary therapy in AL amyloidosis are lacking while early mortality remains significant. Thus, we analyzed the long term outcomes of 85 consecutive unselected patients, which received primary therapy with bortezomib or lenalidomide and we prospectively evaluated a risk adapted strategy based on bortezomib/dexamethasone to reduce early mortality. Twenty‐six patients received full‐dose bortezomib/dexamethasone, 36 patients lenalidomide with oral cyclophosphamide and low‐dose dexamethasone and 23 patients received bortezomib/dexamethasone at a dose and schedule adjusted to the risk of early death. On intent to treat, 67% of patients achieved a hematologic response (24% hemCRs) and 34% an organ response; both were more frequent with bortezomib. An early death occurred in 20%: in 36% of those treated with full‐dose bortezomib/dexamethasone, in 22% of lenalidomide‐treated patients but only in 4.5% of patients treated with risk‐adapted bortezomib/dexamethasone. Activity of full vs. adjusted dose bortezomib/dexamethasone was similar; twice weekly vs. weekly administration of bortezomib also had similar activity. After a median follow up of 57 months, median survival is 47 months and is similar for patients treated with bortezomib vs. lenalidomide‐based regimens. However, risk adjusted‐bortezomib/dexamethasone was associated with improved 1‐year survival vs. full‐dose bortezomib/dexamethasone or lenalidomide‐based therapy (81% vs. 56% vs. 53%, respectively). In conclusion, risk‐adapted bortezomib/dexamethasone may reduce early mortality and preserve activity while long term follow up indicates that remissions obtained with lenalidomide or bortezomib may be durable, even without consolidation with alkylators.Am. J. Hematol. 90:E60–E65, 2015. © 2015 Wiley Periodicals, Inc.     

Quantitative assessment of background parenchymal enhancement in breast MRI predicts response to risk-reducing salpingo-oophorectomy: preliminary evaluation in a cohort of BRCA1/2 mutation carriers

IntroductionWe present a fully automated method for deriving quantitative measures of background parenchymal enhancement (BPE) from breast dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) and perform a preliminary evaluation of these measures to assess the effect of risk-reducing salpingo-oophorectomy (RRSO) in a cohort of breast cancer susceptibility gene 1/2 (BRCA1/2) mutation carriers.MethodsBreast DCE-MRI data from 50 BRCA1/2 carriers were retrospectively analyzed in compliance with the Health Insurance Portability and Accountability Act and with institutional review board approval. Both the absolute (| |) and relative (%) measures of BPE and fibroglandular tissue (FGT) were computed from the MRI scans acquired before and after RRSO. These pre-RRSO and post-RRSO measures were compared using paired Student’s t test. The area under the curve (AUC) of the receiver operating characteristic (ROC) was used to evaluate the performance of relative changes in the BPE and FGT measures in predicting breast cancer that developed in these women after the RRSO surgery.ResultsFor the 44 women who did not develop breast cancer after RRSO, the absolute volume of BPE and FGT had a significant decrease (P < 0.05) post-RRSO, whereas for the 6 women who developed breast cancer, there were no significant changes in these measures. Higher values in all BPE and FGT measures were also observed post-RRSO for the women who developed breast cancer, compared with women who did not. Relative changes in BPE percentage were most predictive of women who developed breast cancer after RRSO (P < 0.05), whereas combining BPE percentage and |FGT| yielded an AUC of 0.80, higher than BPE percentage (AUC = 0.78) or |FGT| (AUC = 0.66) alone (both P > 0.02).ConclusionsQuantitative measures of BPE and FGT are different before and after RRSO, and their relative changes are associated with prediction of developing breast cancer, potentially indicative of women who are more susceptible to develop breast cancer after RRSO in BRCA1/2 mutation carriers.

Electronic supplementary material

The online version of this article (doi:10.1186/s13058-015-0577-0) contains supplementary material, which is available to authorized users.