Testicular adrenal rests in a patient with congenital adrenal hyperplasia: US and MRI features

We present ultrasonographic and magnetic resonance imaging findings of intratesticular adrenal rests in a 16-year-old patient with congenital adrenal hyperplasia. Scrotal ultrasonography showed bilateral well-delineated homogenous hypoechoic lesions located around the mediastinum testis, which were highly vascularized on power Doppler ultrasonography. Relative to normal testicular parenchyma the lesions were iso- or hyperintense on T1-weighted and hypointense on T2-weighted images. T2-weighted images also showed a target-like appearance caused by a more hypointense peripheral halo around the lesions. The lesions enhanced remarkably on post-contrast images. This case suggests that radiological evaluation of testes, even in the presence of normal physical examination findings, should be included in periodical follow-up of patients with congenital adrenal hyperplasia. Magnetic resonance (MR) imaging is useful in demonstrating the lesions, because the contrast resolution better than with ultrasonography.     

Paravertebral blocks provide superior same-day recovery over general anesthesia for patients undergoing inguinal hernia repair

Inguinal herniorrhaphy is commonly performed on an outpatient basis under nerve blocks or local or general anesthesia (GA). Our hypothesis is that use of paravertebral blocks (PVB) as the sole anesthetic technique will result in shorter time to achieve home readiness and improved same-day recovery over a 'fast-track' GA. Fifty patients were randomly assigned to receive either PVB or GA under standardized protocols (PVB = 0.75% ropivacaine, followed by propofol sedation; GA = dolasetron 12.5 mg, propofol induction, rocuronium, endotracheal intubation; desflurane; bupivacaine 0.25% for field block). Eligibility for postanesthetic care unit (PACU) bypass and data on time-to-postoperative pain, ambulation, home readiness, and incidence of adverse events were collected. More patients in the PVB group (71%) met the criteria to bypass the postanesthetic care unit compared with patients in the GA group (8%; P < 0.001). Only 3 (13%) of patients in the PVB group requested treatment for pain while in the hospital, compared with 12 (50%) patients in the GA group, despite infiltration with local anesthetic (P = 0.005). Patients in the PVB group were able to ambulate earlier (102 +/- 55 minutes) than those in the GA group (213 +/- 108 minutes; P < 0.001). Time-to-home readiness and discharge times were shorter for patients in the PVB group (156 +/- 60 and 253 +/- 37 minutes) compared with those in the GA group (203 +/- 91 and 218 +/- 93 minutes) (P < 0.001). Adverse events (e.g., nausea, vomiting, sore throat) and pain requiring treatment in the first 24 hours occurred less frequently in patients who had received PVB than in those who had received GA. In outpatients undergoing inguinal herniorrhaphy, PVB resulted in faster time to home readiness and was associated with fewer adverse events and better analgesia before discharge than GA.     

The effect of treatment interruptions in the postoperative irradiation of breast cancer

OBJECTIVE: There is much evidence for the detrimental effect of treatment interruptions on tumor control, particularly in head and neck cancer. In order to determine the outcome of the treatment interruptions in postoperative irradiation of breast cancer, 853 female patients treated between 1990 and 1999 inclusive were retrospectively analyzed. METHODS: Locally advanced breast cancer patients who received neoadjuvant chemotherapy were not included in the study. Five hundred and forty-six patients (64%) treated with mastectomy and 307 patients (36%) with breast-conserving surgery were analyzed. A total dose of 50 Gy (46--54 Gy) was given to the chest wall/breast and regional lymph nodes in 1.8- to 2-Gy daily fractions, 5 times per week. A 14-Gy (10- to 20-Gy) photon or electron boost was given to the tumor bed of the patients with breast-conserving surgery. Unplanned treatment interruptions occurred in 741 (87%) of the patients and the median duration of the gaps was 13 days (1--91 days). A total of 348 patients (41%) had no treatment break or interruptions of 1 week or less, whereas 505 patients (59%) had treatment interruptions of more than 1 week. The locoregional control (LC) and overall survival (OS) rates were estimated with the Kaplan-Meier method. A Cox proportional hazard regression model was used to evaluate the influence of host- and treatment-related factors on LC and OS (age, menopausal status, histological subtype, grade, hormonal receptor status, pT stage, pN stage, type of surgery, adjuvant treatment, number of gaps and duration of gaps). RESULTS:For all patients LC rates for 5 and 10 years were 95 and 87%, respectively, and OS rates were 78% for 5 years and 62% for 10 years. LC rates for the group of patients with no treatment break or interruptions of 1 week or less, for 5 and 10 years were 94 and 90%, whereas the LC rates for 5 and 10 years were 89 and 86%, for the group of patients with interruptions of more than 1 week (p=0.019). Treatment interruptions of more than 1 week and premenopausal status appeared to be independent adverse prognostic factors in multivariate analyses affecting the LC (p=0.043 and p=0.005, respectively). The OS rates for the patients without treatment interruptions or interruptions of 1 week or less were also significantly better than for the patients with treatment interruptions of more than 1 week (p=0.026) in multivariate analyses. CONCLUSION:Interruptions more than 1 week during postoperative irradiation of breast cancer adversely affect the treatment outcome.     

IMPAD1 mutations in two Catel-Manzke like patients

Catel-Manzke syndrome is characterized by hyperphalangism with bilateral deviation of the index fingers and micrognathia with or without cleft palate. Some atypical patients present with additional malformations. No molecular basis is yet available. Most patients have an unremarkable family history but autosomal recessive inheritance has been recently suggested in a consanguineous family with recurrence in sibs. Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, brachydactyly and cleft palate. The aim of our study was to screen CANT1 and IMPAD1 in Catel-Manzke patients. Three patients were diagnosed as classical Catel-Manzke syndrome and two as Catel-Manzke like patients, based on the presence of additional features. We identified two homozygous loss-of-function IMPAD1 mutations in the two Catel-Manzke like patients (p.Arg187X and p.Ser108ArgfsX48). The phenotype was characterized by severe growth retardation with short and abnormal extremities, cleft palate with micrognathia and knee hyperlaxity. Radiographs of hands and feet revealed numerous accessory bones with abnormally shaped phalanges and carpal synostosis. Based on this report, we concluded that IMPAD1 should be screened for patients with Catel-Manzke and additional features. ? 2012 Wiley Periodicals, Inc.     

Multiple Caeco-Appendiceal Fistulas and Diverticulosis: A Newly Defined Congenital Anomaly of the Appendix—Report of the First Case

Introduction  

Congenital anomalies of the appendix are extremely rare. They are usually found incidentally during operations other than appendectomies. Congenital appendix diverticula are even less frequent.     

Tracheobronchopathia osteochondroplastica in a 9-year-old girl

Tracheobroncopathia osteochondroplastica (TO) is a rare disease of adult males characterized by osteocartilagious submucosal nodules protruding into the airway lumen, causing variable degrees of airway obstruction. Here we describe a case of TO in a 9-year-old girl patient presenting with chronic cough, along with a brief review of this rare benign condition.     

Menopausal hormone therapy (HT) in patients with breast cancer

OBJECTIVES: To assess the effect of menopausal hormone therapy (HT) on reoccurrence, cancer-related mortality, and overall mortality after a diagnosis of breast cancer. METHODS: We performed a quantitative review of all studies reporting experience with menopausal HT for symptomatic use after a diagnosis of breast cancer. Rates of reoccurrence, cancer-related mortality, and overall mortality were calculated in this entire group. A subgroup analysis was performed in studies using a control population to assess the odds ratio of cancer reoccurrence and mortality in hormone users versus non-users. RESULTS: Fifteen studies encompassing 1416 breast cancer survivors using HT were identified. Seven studies included a control group comprised of 1998 patients. Among the 1416 HT users, reoccurrence was noted in 10.0% (95% CI: 8.4-11.6%). Cancer-related mortality occurred at a rate of 2.6% (95% CI: 1.8-3.7%), while overall mortality was 4.5% (95% CI: 3.4-5.8%). Compared to non-users, patients using HT had a decreased chance of reoccurrence and cancer-related mortality with combined odds ratio of 0.5 (95% CI: 0.2-0.7) and 0.3 (95% CI: 0.0-0.6), respectively. CONCLUSIONS: In our review, menopausal HT use in breast cancer survivors was not associated with increased cancer reoccurrence, cancer-related mortality or total mortality. Despite conflicting opinions on this issue, it is important for primary care physicians to feel comfortable medically managing the increasing number of breast cancer survivors. In the subset of women with severe menopausal symptoms, HT options should be reviewed if non-hormonal methods are ineffective. Future trials should focus on better ways to identify breast cancer survivors who may safely benefit from HT versus those who have a substantial risk of reoccurrence with HT use.