A mini-review of familial ovarian germ cell tumors: An additional manifestation of the familial testicular germ cell tumor syndrome

Introduction While testicular germ cell tumors (TGCTs) are the most common malignancy in young men, germ cell tumors in women are uncommon. Familial clustering, epidemiologic evidence of increased risk with family or personal history of TGCT, and associations with genitourinary tract anomalies suggest an underlying genetic predisposition to TGCT, but traditional linkage studies have yet to identify a highly penetrant TGCT cancer susceptibility gene. In this paper, we investigate the familial occurrence of testicular and ovarian germ cell tumors. Methods We report a family in which a TGCT and an ovarian germ cell tumor (OGCT) occurred in two siblings, summarize the existing literature on familial occurrences of OGCT, either alone or in combination with extragonadal or TGCTs, and compare the incidence of familial and sporadic testicular and ovarian GCTs. Sporadic GCT data were obtained from the US Surveillance Epidemiology and End Results (SEER) registry. Results We identified 16 reports of OGCT occurring in conjunction with either ovarian, testicular or extragonadal GCT. In these familial cases, the mean age at onset of female dysgerminoma was younger than that noted in the general population (age 17 vs. age 24, p = 0.01). In SEER, the incidence of TGCT was 15 times higher than that of OGCT. Histologic distributions in males and females showed distinctly different patterns. Discussion Although the incidence of OGCTs in the general population is quite low, its occurrence in multiple members of the same family and in families with TGCT suggests that a gene conferring susceptibility to GCTs may exist in some families.     

Serum platelet-activating factor acetylhydrolase activity: A novel potential inflammatory marker in type 1 diabetes

Plasma activity of the platelet-activating factor acetylhydrolase (PAF-AH) plays an important role in inflammation and atherosclerotic process in chronic diseases. We aimed to evaluate the levels of PAF-AH activity and their association with the metabolic profile and chronic complications in patients with type 1 diabetes. The study included 118 outpatients (54 males) aged 27.1 ± 11.3 years with disease duration of 12.3 ± 8.5 years with (n = 38) or without (n = 80) diabetes complications and 96 control subjects (48 males) matched for age, gender, body mass index and smoking habits. The serum levels of PAF-AH activity were higher in patients either with or without chronic complications (16 ± 5.3 and 14 ± 5.4 nmol/(min mL), respectively) than in controls (13 ± 5.1 nmol/(min mL), P = 0.02). In the total population, PAF-AH activity was correlated with age, HDL-cholesterol, total cholesterol and LDL-cholesterol. In patients, PAF-AH activity was correlated with age, HbA1c, uric acid, HDL-cholesterol, cholesterol, LDL-cholesterol, cholesterol/HDL-cholesterol ratio and the LDL-cholesterol/HDL-cholesterol ratio. It is concluded that PAF-AH plasma activity could be a novel candidate for low-grade inflammatory marker in patients with type 1 diabetes.     

Effects of gender and age on median and ulnar nerve sensory responses over ring finger

ObjectiveTo analyze the effect of gender on median nerve (MN) and ulnar nerve (UN) sensorial responses over ring finger (RF).Materials and methodsResults of individuals admitted to our ENMG laboratory between June 2011 and March 2012 for nerve conduction studies (NCSs) were retrospectively analyzed. Sensory NCSs were performed by standard antidromic technique.ResultsTotally, 112 normal recordings belong to 100 patients were included. Mean antidromic sensory conduction velocity of MNs (wrist-to-second finger) or UNs (wrist-to-fifth finger) was not different between two genders. Mean sensory nerve action potential (SNAP) amplitude of MN from second finger was also not different between two genders. However, mean SNAP amplitude of UN from fifth finger was higher in females. In RF’s sensorial response studies; mean peak latency of MN was similar between females and males (3.05 ± 0.25 ms vs. 3.14 ± 0.29 ms, p = 0.111), whereas one of UN was shorter in females (2.86 ± 0.22 ms vs. 3.04 ± 0.31 ms, p = 0.001). MN to UN latency difference to RF was greater in females than males (0.19 ± 0.15 ms vs. 0.10 ± 0.16 ms, p = 0.007). Mean SNAP amplitude of MN and UN were both higher in females than males (17.9 ± 7.1 μV vs. 14.1 ± 5.5 μV, p = 0.011 and 18.5 ± 8.0 μV vs. 12.9 ± 6.1 μV, p = 0.0009, respectively). All data of NCSs were re-analyzed after adjustment for age, and obtained findings regarding effect of aging are also included.ConclusionGender has a prominent effect on RF’s sensorial responses. Normative values regarding them should be prepared with adjustment for gender.     

Sex determination using discriminant function analysis in Indigenous (Kurubas) children and adolescents of Coorg,Karnataka, India: A lateral cephalometric study

Aim: To test the validity of sex discrimination using lateral cephalometric radiograph and discriminant function analysis in Indigenous (Kuruba) children and adolescents of Coorg, Karnataka, India. Methods and materials: Six hundred and sixteen lateral cephalograms of 380 male and 236 females of age ranging from 6.5 to 18 years of Indigenous population of Coorg, Karnataka, India called Kurubas having a normal occlusion were included in the study. Lateral cephalograms were obtained in a standard position with teeth in centric occlusion and lips relaxed. Each radiograph was traced and cephalometric landmarks were measured using digital calliper. Calculations of 24 cephalometric measurements were performed. Results: Males exhibited significantly greater mean angular and linear cephalometric measurements as compared to females (p < 0.05) (Table 5). Also, significant differences (p < 0.05) were observed in all the variables according to age (Table 6). Out of 24 variables, only ULTc predicts the gender. The reliability of the derived discriminant function was assessed among study subjects; 100% of males and females were recognized correctly. Conclusion: The final outcome of this study validates the existence of sexual dimorphism in the skeleton as early as 6.5 years of age. There is a need for further research to determine other landmarks that can help in sex determination and norms for Indigenous (Kuruba) population and also other Indigenous population of Coorg, Karnataka, India.     

Surface electromyography reveals males have a slower patellar reflex than females

In humans the cross sectional area of spinal motor neurons at L3 is larger in males than in females. Since these contribute to the control of the quadriceps femoris muscle group and are involved in the patellar reflex (PR), gender differences in the PR are expected. We have investigated this possibility using a group of 28 young subjects (14 male and 14 female) aged 20–22 years. The PR was quantified by the muscle compound action potential (MCAP) from the surface electromyogram (sEMG) of the vastus lateralis muscle. We found that the PR latency in females (17 ± 0.19 ms), was significantly (p < 0.001) faster than in males (21 ± 0.37 ms). This 4 ms difference in latency could not be ascribed to differences in stature or thigh length. In conclusion, for the age range tested females posses a significantly faster patellar reflex than males. We suggest that the slower PR latency of male subjects may arise in part from their larger α-motorneurons: such that longer integration times are required for the summation of postsynaptic excitation to be sufficient to excite α-motorneurons.     

Temperature-dependent development of overwintering Sericinus montela Gray (Lepidoptera: Papilionidae) pupae and its validation

The developmental time and survival of overwintering Sericinus montela Gray pupae were studied at four constant temperatures (15.0, 20.0, 25.0, and 30.0 °C), 40 ± 10% relative humidity, and 10:14 h light:dark cycle. The developmental time of both sexes decreased with increasing temperature between 15.0 °C (70.18 days for females and 55.28 days for males) and 30.0 °C (19.60 days for females and 13.78 days for males). The development periods of females were longer than those of males at each constant temperature. The relationship between the developmental rate and temperature was fitted by a linear model and a nonlinear developmental rate model (Lactin 1). The mortality of overwintered S. montela pupae was lowest at 25.0 °C (16.7%) and highest at 15.0 °C (36.7%). The lower developmental thresholds were 12.38 and 12.16 °C for females and males, respectively. The distribution of development completion for females and males was described by the two-parameter Weibull distribution equation (r² = 0.87 for females and r² = 0.94 for males). The date for the cumulative 50% adult emergence was within one or two days of that predicted using the Lactin 1 model. The temperature-dependent developmental model for S. montela could be applied to predict the timing of spring emergence in different geographical locations and will be helpful in developing a full-cycle phenology model for S. montela.     

Children and Adolescents with Gender Dysphoria in Israel: Increasing Referral and Fertility Preservation Rates

Objective: To describe patient characteristics at presentation, management, and fertility preservation rates among a cohort of Israeli children and adolescents with gender dysphoria (GD).Methods: We performed a retrospective chart review of 106 consecutive children and adolescents with GD (<18 years) referred to and followed at the multidisciplinary Israeli Pediatric Gender Dysphoria Clinic from March 2013 through December 2018.Results: Of the 106 patients, 10 were prepubertal (9 prepubertal transgender females), and 96 were pubertal (38 pubertal transgender females). The GD population increased 11-fold since the establishment of our clinic in 2013. The subject's median age at referral was 15.5 years (range, 4.6 to 18 years). At the time of referral, 91 (95%) of the pubertal group had completed sexual maturation in their assigned gender at birth. Thirteen (13.5%) patients had attempted suicide, and 11 (11.5%) reported having had suicidal thoughts. Fourteen (45%) pubertal transgender females and 3 (6.5%) pubertal transgender males completed fertility preservation. Gonadotropin-releasing hormone analog treatment was prescribed in 77 (80%) patients at a mean age of 15.9 ± 1.6 years. Gender-affirming hormones were prescribed in 61 (64%) patients at a mean age of 16.5 ± 1.3 years. No severe side effects were recorded. Two (2%) of the pubertal group expressed regret about medical treatment.Conclusion: Children and adolescents with GD are presenting for medical attention at increasing rates. Israeli adolescents with GD have high fertility preservation rates, perhaps attributable to cultural perspectives. Taking advantage of the option to preserve fertility can be achieved when proper counseling is both available and promoted by medical personnel.Abbreviations: GAH = gender-affirming hormone; GD = gender dysphoria; GnRHa = gonadotropin-releasing hormone analog; MHP = mental health professional     

Differences in the proportion of collagen and muscle in the canine lower urinary tract with regard to gonadal status and gender

Gonadectomy not only affects hormonal homeostasis but also alters the turnover of different components of the extracellular matrix in urogenital tissues. Collagen is an important component of the bladder and urethral walls and thus crucial for the mechanical properties of normal lower urinary tract (LUT) functions. This study aimed at investigating the possibility of differences in the proportion of collagen and muscle tissues in the LUT of intact and gonadectomised male and female dogs. Twenty clinically healthy dogs were used including 10 sexually intact dogs (5 males, 5 anoestrus females) and 10 gonadectomised dogs (4 males and 6 females). Four regions of the LUT, i.e. body and neck of the bladder as well as proximal and distal urethra were collected. The tissue sections were stained with Masson's Trichrome. Quantitative evaluation of the blue-stained area for collagen and red-counterstained area for muscle was performed using colour image analysis. The relative proportion of collagen and muscle significantly differed with the gonadal status, the gender and the region. Overall, gonadectomised dogs had a higher (P < 0.001) proportion of collagen and consequently a lower (P < 0.001) proportion of muscle than intact dogs. Regardless of gonadal statuses, females had a higher (P < 0.05) proportion of collagen and a lower (P < 0.05) proportion of muscle tissues than males. Gender differences were found in all four regions of the LUT in intact dogs but only in proximal urethra in gonadectomised dogs where spayed females had a higher (P < 0.05) proportion of collagen and less muscle (P < 0.05). Regional differences were observed in females; a higher proportion of collagen and therefore less muscle were found in the urethra compared with the bladder. Proportional differences in collagen and muscle between intact and gonadectomised animals suggest a relation of different hormonal statuses to structural changes in the canine LUT. Excessive collagen deposits and less muscular volume may impair structural and functional integrity of the LUT which may associate with the development of post-neutering urinary incontinence in the dog.     

Growth and age at sexual maturity of South American sea lions

The average age at sexual maturity (ASM) is an important parameter for evaluating the reproductive potential or status of a population. South American sea lions, Otaria flavescens in Patagonia (Argentina) were exploited and reduced to less than 10% of pre-exploitation numbers. At present, the population is recovering at a rate of 6%. In this paper, we studied growth and age at sexual maturity of South American sea lions in the south-western south Atlantic by examining 219 individuals (females and males) collected between 1989-2008. Individuals were aged by counting growth layer groups in tooth sections, standard body length was measured and male and female reproductive organs were examined macroscopically and histologically to establish individual sexual maturity. Maximum recorded length for males and females was 264 cm and 200 cm, respectively, and maximum ages 19 and 21 yrs. ASM defined as the age where 50% of females are mature, was estimated at 4.8±0.5 years old, corresponding to a mean SL of 147 cm, about 81% of their asymptotic length. First observed ovulation occurred during the 4th year, first birth may occur between 4 and 5 years old. Males physiologically mature between 4-6 years, but the size of the testes shows that all males became sexually mature by the age of 9 years when they reach a mean SL of 212 cm, about 86% of their asymptotic body length. The present information on ASM and growth of O. flavescens will improve the development of population dynamics models, to investigate the impact of recovering sea lions populations on its marine environment, as well as its trophic interactions with commercial fisheries.     

Parkinson’s disease and sex-related differences in electromyography during daily life

Scope: Daily bilateral electromyography (EMG) recordings reveal muscle activation patterns implicated in asymmetric Parkinson’s disease (PD)-related functional decline. Also, daily EMG recordings reveal sex-differences in muscle activity that give rise to unique PD presentation in males and females. Purpose: Quantify handgrip strength and daily muscle quiescence through analysis of gaps in the EMG signal in males and females with PD. Bilateral daily EMG was recorded and normalized to maximal voluntary exertions (MVE). EMG gap was defined as <1% amplitude of MVE for >0.1 s and characterized as number, duration and time occupied by gaps. A dynamometer evaluated maximal grip-strength. Three-way repeated measures ANOVA examined differences in gap characteristics and strength. Gap duration was shorter (p = 0.04) and occupied less time (p = 0.02) in PD than controls. Females had fewer gaps with shorter duration (p = 0.004), occupying less time (p = 0.004) compared with males. Gaps were fewer (p = 0.04) and occupied less time (p = 0.01) on more-affected than less-affected side. PD was weaker than controls (p = 0.04), females were weaker than males (p = 0.00), and the more-affected PD side was weaker than less-affected (p = 0.04). Conclusions: Quantification of muscle quiescence through gaps in the EMG signal recorded during daily life provides insight into mechanisms underlying differential change in functional performance in males and females with PD.     

Age–period–cohort analysis of colorectal cancer in East Anglia, 1971–2005

Background: This study aimed to investigate the incidence trends of colorectal cancer by sex and subsite, in East Anglia from 1971 to 2005. Methods: Using data from the Eastern Cancer Registration and Information Centre, we examined the time trends and the effect of age, period of diagnosis and birth cohort on the incidence of colorectal cancer by sex and subsite. Results: Between 1971 and 2005, 23 875 males and 22 651 females were registered with colorectal cancer in East Anglia. During this period, the increase in the incidence trends was higher among males, more recent periods of diagnosis, and proximal colon. Cohort effects were statistically significant in distal and rectal cancers in males (p < 0.001 and p = 0.05, respectively), and in proximal colon in females (p < 0.001). Period effects were statistically significant across all subsites and both sexes (p < 0.001 for all). Conclusions: Period effects were significant across all subsites for both sexes, whereas cohort effects varied in their significance levels depending on subsite and sex. We suggest that the period effect may be due to an increase in the use of colonoscopy for diagnostic or opportunistic screening, and the cohort effect may be due to aetiological differences in CRC between sexes and subsites.     

Sex differences in jaw muscle duty factors during exercise in two environments: A pilot study

It is unknown if females and males use jaw muscles similarly during exercise. This pilot study assessed jaw elevator muscle duty factors (DFs = time of muscle activity/total recording time) at repeated sessions to test if DFs are reliable and different between sexes during exercises in two environments. Ten female and seven male subjects recruited from university soccer teams provided informed consent. Surface electromyography was recorded from masseter and temporalis muscles during biting and leg-extension laboratory exercises. Average activities to produce 20 N bite-forces for each muscle and subject determined thresholds (5–80%·T20 N) for subject-specific DF calculations during exercises performed in laboratory and natural environments. Subjects self-recorded via portable electromyography equipment during in-field leg-extension and weight-lifting exercises. Effects of variables on DFs were assessed via ANOVA (α = 0.05) and simple effects testing (Bonferroni-adjusted p ⩽ 0.012). All subjects used jaw muscles during exercises in both environments. DFs between laboratory sessions were reliable (R = 0.84). During laboratory exercises, male temporalis DFs were significantly higher than female DFs from both muscles (p ⩽ 0.001). During in-field exercises females had higher DFs during weight-lifting while males had higher DFs during leg-extensions. In-field sex differences were significant at most thresholds and showed larger effect sizes for leg-extension compared to weight-lifting exercises.     

Clinical Features and Retroperitoneal Laparoscopic Resection of Adrenal Schwannoma in 19 Patients

Objective: To explore the diagnostic and therapeutic principles of the rare adrenal schwannoma.Methods: We objectively analyzed the detailed clinical data of 19 patients with adrenal schwannoma treated in a large comprehensive medical center in China between January 2009 and March 2014, including general information, clinical manifestations, imaging, adrenal-related endocrine tests, treatment, pathology, and follow-up records.Results: Patients included 16 females and 3 males ranging from 23 to 66 years of age (mean, 48.3 ± 12.6 years), of whom 15 were discovered incidentally. Four patients reported mild abdominal discomfort. Each patient had one unilateral lesion, ranging in diameter from 4.0 to 8.8 cm (mean, 6.2 ± 1.2 cm). Lesions were hypoechoic in 16 patients and cystic-solid in 3 patients. Computed tomography (CT) scanning revealed soft tissue density, mostly with calcifications and clear boundaries. Average values in normal and enhanced CT were 28.7 ± 7.2 Hounsfield units (HU) and 59.7 ± 5.4 HU, respectively. Indicators of adrenal-related endocrine tests were normal, except that catecholamines levels were slightly low in 2 patients with excessively large lesions. All patients underwent uncomplicated retroperitoneal laparoscopic surgery, with subsequent pathology confirmation of adrenal schwannoma. The patients have been followed for 6 months to 4 years, with no recurrence.Conclusion: Our results demonstrate that the onset of adrenal schwannoma is always occult, without typical clinical manifestations and adrenal-related endocrine abnormalities, and the pre-operative diagnosis depends primarily on imaging features of hypoechoic calcifications and mild enhancement. Diagnosis can be confirmed by postoperative pathology. Even with large diameter lesions, retroperitoneal laparoscopic surgery is still the preferred approach, with good prognosis.Abbreviations: CT = computed tomography DA = dopamine E = epinephrine HE = hematoxylin-eosin HU = Hounsfield unit NE = norepinephrine PET/CT = positron emission tomography/computed tomography S-100 = soluble protein-100     

Risk of malignant childhood germ cell tumors in relation to demographic,gestational, and perinatal characteristics

BackgroundChildhood germ cell tumors (GCTs) are a rare assortment of neoplasms, with mostly unknown etiology, that are believed to originate very early in life. Few studies have examined risk factors by histologic subtype, despite evidence of different risk profiles.Materials and methodsIn this population-based case-control study, 451 childhood malignant GCT cases ages 0–5 years were identified from the California Cancer Registry. Differentiating between common histologic subtypes, we identified 181 yolk sac tumors, 216 teratomas, and 54 rarer subtypes. Cases were linked to their birth certificates and 271,381 controls, frequency matched by birth year, were randomly selected from California birthrolls to investigate the contributions of demographic, gestational, and pregnancy factors using unconditional logistic regression analysis.ResultsCompared to non-Hispanic whites, Asian/Pacific Islander children were at an increased risk for developing GCTs (odds ratio [OR] = 1.94; 95% confidence interval [CI] = 1.47, 2.56). Among pregnancy complications and procedures, yolk sac tumors were positively associated with the presence of fetopelvic disproportion (OR = 2.97; 95% CI = 1.55, 5.68), while teratomas were strongly associated with polyhydramnios or oligohydramnios (OR = 14.76; 95% CI = 7.21, 30.19) and the presence of an ear, face, or neck anomaly at birth (OR = 93.70; 95% CI = 42.14, 208.82).ConclusionsMalignant yolk sac tumors and malignant teratomas exhibited distinct demographic and gestational characteristics; additionally, complications in pregnancy and labor may be brought on by specific histologic subtypes.     

Cancer survival in patients with HIV/AIDS in the era of highly active antiretroviral therapy in Taiwan: A population-based cohort study

Objectives: HIV-related immunosuppression has been associated with the development of AIDS-defining malignancies. We examined the overall survival of HIV-infected patients who developed cancer. Design: A retrospective cohort study. Methods: Using the Taiwan Longitudinal Health Insurance Database, we compared patients diagnosed with HIV (n = 9918) between January 1, 2002, and December 31, 2007 with age-matched controls (n = 99,180). Each patient was followed until the end of 2009 (least 2 years after the initial HIV diagnosis) to evaluate the incidence of malignancies. Results: The risk of overall malignancies in the HIV-infected cohort was 1.88 times higher than the risk of a first malignancy in the age-matched non-HIV infected cohort (incidence rate ratio [IRR]) = 2.05, p < 0.0001). The diagnosis of a malignancy was negatively correlated with survival in the HIV-infected cohort (p < 0.0011), and HIV infection had a synergistic effect on the survival of patients with malignancies compared with the non-HIV infected cohort, all of who had been newly diagnosed with cancer (p < 0.0001). However, the difference in the risk of developing nasopharyngeal carcinoma (NPC), a highly prevalent malignancy in Taiwan, between the two cohorts was not significant (IRR = 0.22, 95% CI = 0.03–1.65). Conclusions: The risk of cancer in HIV-infected patients in Taiwan has increased significantly in the era of highly active antiretroviral therapy. A history of HIV significantly affected the survival of the patients in our study cohort after they developed cancer.Evidence level: 2B.     

Effets de l’âge et du genre sur la perfusion cérébrale régionale étudiée par deux méthodes d’analyse statistique voxel-par-voxel

Fully automated analysis programs have been applied more and more to aid for the reading of regional cerebral blood flow SPECT study. They are increasingly based on the comparison of the patient study with a normal database. In this study, we evaluate the ability of Three-Dimensional Stereotactic Surface Projection (3D-SSP) to isolate effects of age and gender in a previously studied normal population. The results were also compared with those obtained using Statistical Parametric Mapping (SPM99).MethodsEighty-nine ^99mTc-ECD-SPECT studies performed in carefully screened healthy volunteers (46 females, 43 males; age 20–81 years) were analysed using 3D-SSP. A multivariate analysis based on the general linear model was performed with regions as intrasubject factor, gender as intersubject factor and age as covariate.ResultsBoth age and gender had a significant interaction effect with regional tracer uptake. An age-related decline (p < 0.001) was found in the anterior cingulate gyrus, left frontal association cortex and left insula. Bilateral occipital association and left primary visual cortical uptake showed a significant relative increase with age (p < 0.001). Concerning the gender effect, women showed higher uptake (p < 0.01) in the parietal and right sensorimotor cortices. An age by gender interaction (p < 0.01) was only found in the left medial frontal cortex. The results were consistent with those obtained with SPM99.Conclusion3D-SSP analysis of normal rCBF variability is consistent with the literature and other automated voxel-based techniques, which highlight the effects of both age and gender.     

Cancer mortality among adolescents and young adults: A historical cohort in a reference institution for cancer treatment in Santa Catarina/South of Brazil 2002–2013

ObjectiveTo identify factors associated with early mortality from cancer in adolescents and young adults in a reference institution for oncology treatment in Santa Catarina, Brazil.MethodsWe studied a retrospective cohort with an intentional sample of adolescents (ages 15–19) and young adults (ages 20–29) diagnosed with neoplasia. Secondary data were acquired from January 2002 to December 2013. Kaplan–Meier and Cox regression methods were used for survival analysis. Logistical analysis tested the association between early death (lower tertile between diagnosis and death, according to cancer type) and clinical or sociodemographic variables.ResultsWe included a total of 889 cases with an average age of 23, with similar gender distributions and a predominance of Caucasian ethnicity. Using the Cox framework of proportional risks adjusted for neoplasia types and gender, individuals with non-hematological neoplasia (solid tumors) presented a 47% higher risk of dying when compared with individuals diagnosed with leukemias and lymphomas (HR: 1.47; 95%CI: 1.12–1.93). Chances of death were 31% higher for males than for females (HR: 1.31; 95%CI: 1.02–1.69). When adjusting for type of neoplasia and age (15–24 and 25–29) the risk of death by cancer was 51% greater in individuals diagnosed with non-hematological neoplasia when compared with individuals diagnosed with leukemias and lymphomas (HR: 1.51; 95%CI: 1.15–1.99). The chance of death by cancer in patients under the age of 25 was 33% greater when compared to that in older patients between the ages of 25 and 29 (HR: 1.33; 95%CI: 1.04–1.75). In multiple regression analysis, factors associated with early mortality from cancer were the number of years in school (P = 0.011) and time between diagnosis and start of treatment (P < 0.001).ConclusionsThe sample studied with a longer period of time between diagnosis and the start of treatment (access to oncology therapy) and with fewer years in school showed that these factors had important roles in early death from cancer for the observed individuals. This must be considered when planning and identifying risk in young cancer patients in order to lower the impact of the disease on mortality for this age group.     

Clinical outcomes of female breast cancer according to BRCA mutation status

BackgroundTo investigate breast cancer prognosis (disease-free (DFS) and overall survival (OS)) among carriers of germline BRCA mutations (BRCAm) in Denmark.MethodsWe identified all women in Central and Northern Denmark diagnosed with breast cancer during 2004–2011. We retrieved information on germline BRCAm testing from Clinical Genetics departments and clinical/treatment characteristics from population-based medical registries. Follow-up for recurrence, new primary cancer, and mortality extended from 180 days after diagnosis until 31/12/2012. We estimated median DFS and OS and five-year cumulative incidence and incidence rates (IR/1000 person-years), and 95% confidence intervals (95% CI), for each outcome.ResultsAmong 9874 patients, 523 (5%) underwent BRCA testing—90 were BRCAm carriers, 433 were BRCA wildtype (BRCAwt). Compared with BRCAwt women, BRCAm carriers were younger, had lower stage, and ER- and HER2- tumors. Median time from diagnosis to BRCA testing was 0.91 years and 1.3 years in BRCAm and BRCAwt women; median follow-up to first event was 3.9 and 3.4 years, respectively. Five-year DFS and OS were higher in BRCAm than BRCAwt women: 88% (95%CI = 78.3–93.5) vs. 75.3% (95%CI = 70.2–79.6) and 97.8% (95%CI = 91.4–99.4) vs 92.2% (95%CI = 88.5–94.7), respectively. Five-year IRs of recurrence were 36.7/1000 person-years (95%CI = 15.8–72.2) in the BRCAm cohort vs. 58.4 (95%CI = 42.9–77.6) in the BRCAwt cohort.ConclusionsBRCAm carriers may have a better prognosis than BRCAwt women. However, limited testing conducted mainly during follow-up, yielded low numbers for precise estimations, and may be attributable to selection bias.     

Local serum levels of vascular endothelial growth factor in infantile hemangioma: Intriguing mechanism of endothelial growth

The pathogenesis of hemangiomas still remains poorly understood. Dysregulation of angiogenesis has been proposed to play a central role in hemangioma pathogenesis. The aim of our study was to determine the peripheral and local serum levels of VEGF in patients with hemangiomas and vascular malformations. Material and methods: The study group consisted of 52 children with infantile hemangioma (33 with proliferative lesions, 19 with involuting lesions), 14 children with vascular malformations and 36 healthy children. VEGF serum levels were analyzed by an ELISA assay and the values between the groups were compared. Results: The serum peripheral VEGF concentrations in children with proliferative hemangiomas were significantly higher than in patients with involuting hemangiomas, vascular malformations and controls. There was no correlation between the measured cytokine level, hemangioma size, and the age of the patients. The local serum VEGF levels in 29 children with hemangiomas were distinctly lower than in the peripheral blood, both in 20 proliferating hemangiomas (p < 0.0001) and 9 involuting ones (p = 0.007); and the difference between females and males was non-significant (NS p = 0.06). Conclusions: (1) VEGF serum levels vary in the different phases of hemangioma growth and may help to distinguish hemangiomas from vascular malformations; (2) obtained local results may support the intrinsic theory of endothelial cell proliferation in hemangiomas.     

Contraction intensity and sex differences in knee-extensor fatigability

Females are less fatigable than males during isometric contractions across various muscles and intensities. However, sex differences in knee-extensor fatigability remain relatively unexplored. Purpose: To determine the sex difference in performance fatigability for intermittent, isometric contractions of the knee-extensor muscles. Methods: Eighteen participants (10 males, 8 females) performed intermittent, isometric, knee-extensor contractions at 30% of their maximal voluntary force (MVC) for 30 min and in a separate session at 50% MVC until task-failure. During both fatiguing protocols a MVC was performed every 60 s and electromyography (EMG) was recorded during all contractions. Results: At task completion males had a larger reduction in MVC force for the 30% MVC task (−32 ± 15% vs. −15 ± 16%, P = 0.042) and the 50% MVC task (−34 ± 8% vs. −24 ± 1%, P = 0.045). Furthermore, for the 50% MVC task, females had a longer task duration (937 ± 525 s vs. 397 ± 153 s, P = 0.007). The rise in EMG activity and force fluctuations were more rapid for the males than females (P < 0.05). When participants were matched for strength post hoc (n = 10), a sex difference in fatigability for both tasks was still evident. Conclusions: Females were less fatigable than males during intermittent, isometric, knee-extensor contractions at moderate relative forces and this difference was independent of strength.