Effect of COVID-19 isolation measures on physical activity of children and their parents, and role of the family environment: a cross-sectional study.

Background: The rigorous isolation measures due to the COVID-19 pandemic seriously impacted children's lifestyles. A descriptive cross-sectional study was carried out to collect and analyze information about physical activity habits of children and their parents during the social distancing period resulting from the COVID-19 pandemic. Methods: An online questionnaire was administered to 363 families (507 children aged 5-13) recruited by convenience sampling, asking for physical activity type and frequency before, during, and after the lockdown period (9th March - May 3rd 2020), education, outdoor spaces, and children's weight gain perception. Results: Results show a remarkable decrease in children's physical activity during lockdown (88.9 vs 39.8% active children) associated with older age and low availability of outdoor spaces (p<0.001). Parents' physical activity was related to educational level, and a slight but significant correlation between parents' education and children's physical activity was found, especially with father's university degree (p<0.05). Active mothers significantly influenced children's physical activity during the lockdown, especially if not engaged in smart working. The return to an active lifestyle by children did not reach previous levels (75.9% active children) and was directly related to parent's physical activity. Finally, the risk of weight gain was lower in active children during the lockdown (OR = 0.46; p<0.001). Conclusions: This work highlights the importance of physical activity during a pandemic event to prevent the risk of gaining weight, and underlines the relevance of the entire family system as a source of promotion of healthy behaviors in children.

The effects of human sera conditioned by high-intensity exercise sessions and training on the tumorigenic potential of cancer cells.

PURPOSE: There is growing evidence of an association between physical activity and a reduced risk of cancer and cancer recurrence. The aim of this study was to assess the effects of exercise-conditioned human serum (HS) effects on the proliferative and tumorigenic potential of triple-negative breast cancer (TNBC) and prostate cancer (PC) cells. Moreover, modulated mechanisms and several physiological factors that can predict exercise effects were investigated. METHODS: Thirty healthy sedentary subjects were recruited for the study. The subjects performed two high-intensity endurance cycling (HIEC) sessions before and after a nine-week period of high-intensity interval training (HIIT). Cell tumorigenic capacity affected by HS collected before (t0), immediately after (t1), 4 h (t2), and 24 h (t3) after the HIEC sessions was evaluated by in vitro three-dimensional colony formation. The modulation of molecular pathways was analyzed by western blotting and qPCR in TNBC and PC cells, and in TNBC xenografts in exercised mice. RESULTS: All of the HIEC-conditioned HS (t1, t2, and t3) markedly impacted the proliferative and the microtumor-forming capacity of both TNBC and PC cell lines, while the HS collected from the subjects at rest did not. Modulation of the Hippo and Wnt/ß-catenin pathways by HIEC-conditioned HS before and after the period of HIIT was shown. Multiple linear regression analysis showed relationships between the effects of HIEC-conditioned HS in PC cells, lactate threshold and VO2max. CONCLUSIONS: These results highlight the potential of HIEC bouts in tumor progression control and the importance of optimizing an approach to identify physiological predictors of the effects of acute exercise in tertiary cancer prevention.

Influence of parental habits and drug use in adolescents' physical activity: a case study of an Italian high school.

BACKGROUND: Physical activity is considered a fundamental element for health promotion, also during adolescence, contributing to the psycho-physical well-being of the individuals. Here we evaluate the relationship between risk behavior and physical activity habits of adolescents and their parents. METHODS: A total of 220 subjects (115 females, 105 males), aged between 14 and 18, were asked about their own and parents' physical activity habits and tobacco, alcohol, and light drug consumption. The chi-square test was used to detect differences between males and females. Categorical principal component analysis and Spearman's correlation were used to find associations between the variables analyzed. RESULTS: Our results show a prevalence of an active lifestyle of 52.3%, with no significant gender differences. The consumption of tobacco, alcohol, and light drugs was 28.2, 63.2, and 16.8%, respectively, with a higher prevalence in males and correlated with age. We found a positive correlation between physical activity practice and parents' physical activity, especially between mothers and daughters. Finally, male physical activity practice is inversely related to risk behaviors. CONCLUSIONS: Our findings underline the importance of family and parental involvement in promoting health behaviors, such as physical and sports activities, that can represent a powerful educational tool for the prevention of social dangers.

Ultrasound evaluation of female reproductive system in free ranging Giant Anteater (Myrmecophaga tridactyla): case report / Avaliação ultrassonográfica do sistema reprodutor feminino em tamanduá-bandeira de vida livre (Myrmecophaga tridactyla): relato de caso

An adult, female, 31kg body weight, free range Myrmecophaga tridactyla was referred for medical consultation due to apathy, dehydration, intense flatulence and fetid stools. The animal was submitted to chemical restraint and physical examination, blood count, fecal analysis, and vaginal cytology and abdominal ultrasonography were performed. Good nutritional status and clinical variables within the normal range were observed at physical examination. At vaginal cytology leukocytes, spermatozoa and a large proportion of cornified cells (superficial) were observed, indicating estrus and recent copula. At ultrasound examination it was possible to locate, identify, evaluate and measure the ovaries and the uterine structures, cervix, body, lumen, myometrium and endometrium, a fact never reported in the literature for this species. These data can be used as reference for clinical evaluation of the reproductive tract in Myrmecophaga tridactyla females considered vulnerable species, for the diagnosis of reproductive pathologies, biotechnologies application or estrous cycle evaluation.(AU)

Uma fêmea, com 31kg de peso corporal, de Myrmecophaga tridactyla, de vida livre, foi apresentada para consulta médica em razão de apatia, desidratação, flatulência intensa e fezes fétidas. O animal foi submetido à contenção química e foram realizados exame físico, hemograma, análise fecal, citologia vaginal e ultrassonografia abdominal. Ao exame físico, foi determinado bom estado nutricional e variáveis clínicas dentro da faixa de normalidade. Na citologia vaginal, foram observados leucócitos, espermatozoides e uma grande proporção de células cornificadas (superficiais), indicando estro e cópula recente. No exame ultrassonográfico, foi possível localizar, identificar, avaliar e mensurar os ovários e as estruturas uterinas, o colo do útero, o corpo do útero, o lúmen, o miométrio e o endométrio, fato nunca relatado na literatura para essa espécie. Esses dados podem ser utilizados como referência para avaliação clínica do trato reprodutivo de fêmeas de Myrmecophaga tridactyla considerada espécie vulnerável, para o diagnóstico de patologias reprodutivas, aplicação de biotecnologias ou avaliação do ciclo estral.(AU)

Exacerbations and Pseudomonas aeruginosa colonization are associated with altered lung structure and function in primary ciliary dyskinesia.

BACKGROUND: Recurrent bacterial infections of the respiratory tract are one of the major clinical features of the primary ciliary dyskinesia (PCD), a rare genetic disease due to malfunctioning of motile cilia. Chronic infections and persistent inflammation of the respiratory system result in progressive lung disease. Aim of the study was to highlight the main factors associated with clinical, functional and anatomical deterioration in PCD patients. METHODS: We retrospectively analyzed data from 58 patients with PCD, 37 adults and 21 children. The demographic and clinical data, forced expiratory volume at 1 s (FEV1) and forced vital capacity (FVC), sputum microbiology and imaging results (chest CT scores-modified Bhalla) were recorded. Patients were stratified according to the number of exacerbations (< 2/year vs ≥ 2/year) and chronic Pseudomonas aeruginosa (PA) colonization. The possible correlations between lung function and chest CT scores were assessed; we also evaluated the correlation between these parameters and the severity scores for bronchiectasis (BSI, FACED and e-FACED). RESULTS: Chest CT scores showed a significant correlation with FEV1 (p = 0.0002), age (p <  0.0001), BMI (p = 0.0002) and number of lung lobes involved (p <  0.0001). PA colonization had an overall prevalence of 32.6%: no significant difference in FEV1 between PA colonized and non-colonized patients was found (p = 0.70), while chest CT score was significantly worse in chronic PA colonized patients (p = 0.009). Patients with a high number of exacerbation (≥ 2/year) were older (p = 0.01), had lower FEV1 (p = 0.03), greater number of lobes involved (p < 0.001) and worse CT score than patients with low number of exacerbations (p = 0.001); they also had higher prevalence of PA chronic bronchial infection (33.3% versus 13.6%, p = 0.10). Multivariable linear regression analyses adjusted for gender, age and BMI showed positive associations between PA colonization and number of exacerbations with severity of disease (number of lobes involved, CT score, BSI, FACED, and e-FACED). CONCLUSIONS: In our PCD population the number of exacerbations (≥ 2/year) and PA colonization were the two most relevant factors associated with severity of disease.

Use of hormones in doping and cancer risk.

Hormones with anabolic properties such as growth hormone (GH) and insulin-like growth factor-1 (IGF-1) are commonly abused among professional and recreational athletes to enhance physical ability. Despite their adverse effects are well-documented, the use of GH and IGF-1 has recently grown. This article highlights the anabolic activity related to mechanisms of cancer development and progression. GH/IGF-1 axis is able to activate cellular mechanisms that modulate every key stage of cancer formation and progression, such as inhibition of apoptosis, resistance to treatments, and induction of angiogenesis, metastatic process and cell proliferation. Results from pre-clinical studies and epidemiological observations in patients with an excess of GH and IGF-1 production or treated with these hormones showed a positive association with the risk to develop several types of cancer. In conclusion, athletes should be made aware that long-term treatment with doping agents might increase the risk of developing cancer, especially if associated with other licit or illicit drugs and/or high-protein diet.

Listeriolysin O antibodies detection in pregnant women: results from an Italian pilot study.

BACKGROUND: Listeriosis is a rare infection affecting primarily pregnant women, the elderly and individuals with a weakened immune system and is caused by the ubiquitous bacterium Listeria monocytogenes. Infection during pregnancy can cause severe consequences especially for the fetus, leading to sepsis, premature delivery, stillbirth and miscarriage. STUDY DESIGN: A pilot observational study has been conducted in order to establish the prevalence of seroconversion of specific antibodies against a peculiar toxin belonging to L. monocytogenes, listeriolysin O (LLO), in a population of pregnant women from Senigallia (Central Italy) and to find correlations between anti-LLO antibodies seropositivity and health and nutritional information. A total of 60 women were screened for anti-LLO antibody positivity and interviewed during their pregnancies. Statistical analyses were performed to evaluate antibody prevalence in serum samples and potential risk factors. RESULTS: The seroprevalence resulted 18% (95% CI, 8.2 - 27.7%), corresponding to 11 pregnant women. Categorical principal component analysis and hierarchical cluster analysis revealed a significant correlation between anti-LLO positivity and gastrointestinal pain events and vomit, fever and diarrhea episodes, and a possible association with consumption of pre-cooked meal. No significant correlation was observed in women with a previous miscarriage or with miscarriage cases in their families. CONCLUSIONS: Findings from this pilot study will be used to design a wider study focused on the prevalence of Listeria-specific antibodies in pregnant women and could allow to the identification of nutritional and behavioral habits related to Listeria infection which could lead to significant clinical implications.

Effect of glucosamine and its peptidyl-derivative on the production of extracellular matrix components by human primary chondrocytes.

OBJECTIVE: Aim of this study is to investigate the effects of Glucosamine (GlcN) and its peptidyl-derivative, 2-(N-Acetyl)-L-phenylalanylamido-2-deoxy-ß-D-glucose (NAPA), on extracellular matrix (ECM) synthesis in human primary chondrocytes (HPCs). METHODS: Dose-dependent effect of GlcN and NAPA on Glycosaminoglycan (GAG), Collagen type II (Col2) and Small Leucine-Rich Proteoglycans (SLRPs) was examined by incubating HPCs, cultured in micromasses (3D), with various amounts of two molecules, administered as either GlcN alone or NAPA alone or GlcN plus NAPA (G + N). Immunohystochemical and immunofluorescent staining and biochemical analysis were used to determine the impact of the two molecules on ECM production. Gene expression analysis was performed by TaqMan Real-Time Polymerase Chain Reaction (PCR) assays. RESULTS: The lowest concentration to which GlcN and NAPA were able to affect ECM synthesis was 1 mM. Both molecules administered alone and as G + N stimulated GAGs and SLRPs synthesis at different extent, NAPA and mainly G + N stimulated Col2 production, whereas GlcN was not effective. Both molecules were able to induce Insulin Growth Factor-I (IGF-I) and to stimulate SOX-9, whereas NAPA and G + N were able to up-regulate both Hyaluronic Acid Synthase-2 and Hyaluronic acid. Very interesting is the synergistic effect observed when chondrocyte micromasses were treated with G + N. CONCLUSIONS: The observed anabolic effects and optimal concentrations of GlcN and NAPA, in addition to beneficial effects on other cellular pathways, previously reported, such as the inhibition of IKKα, could be useful to formulate new cartilage repair strategies.

Emerging ciliopathies: are respiratory cilia compromised in Usher syndrome?

PURPOSE: Usher syndrome is a ciliopathy involving photoreceptors and cochlear hair cells (sensory cilia): since sensory and motor ciliopathies can overlap, we analysed the respiratory cilia (motile) in 17 patients affected by Usher syndrome and 18 healthy control subject. PATIENTS AND METHODS: We studied the mucociliary transport time with the saccharine test, ciliary motility and ultrastructure of respiratory cilia obtained by nasal brushing; we also recorded the classical respiratory function values by spirometry. RESULTS: All enrolled subjects showed normal respiratory function values. The mean mucociliary transport time with saccharine was 22.33 ± 17.96 min, which is in the range of normal values. The mean ciliary beat frequency of all subjects was 8.81 ± 2.18 Hz, which is a value approaching the lower physiological limit. None of the classical ciliary alterations characterizing the "ciliary primary dyskinesia" was detected, although two patients showed alterations in number and arrangement of peripheral microtubules and one patient had abnormal ciliary roots. CONCLUSIONS: Respiratory cilia in Usher patients don't seem to have evident ultrastructural alterations, as expected, but the fact that the ciliary motility appeared slightly reduced could emphasize that a rigid distinction between sensory and motor ciliopathies may not reflect what really occurs.

Histological and ultra-structural effects of rapid muscle expansion through intramuscular administration of carbon dioxide: an intra-operative study in an animal model.

INTRODUCTION: Carbon dioxide (CO2) therapy refers to trans-cutaneous or sub-cutaneous administration of CO2 for therapeutic purposes, and recent studies have pointed out that it produces a vasodilation effect after it is locally injected, which helps amplify the reconstructive potentiality of an expanded-muscle flap. MATERIALS AND METHODS: Thirty male Wistar rats, weighting between 350 and 400 g, were randomly divided into three groups of 10. In the first group, single intra-operative rapid expansion was carried out under the right latissimus dorsi muscle. In the second group, for five days prior to surgery, a pre-treatment with intramuscular injections of CO2 was performed. The third group served as controls. For each group, the latissimus dorsi muscle was fixed as soon possible after mice died, and ultrathin sections of it examined with transmission electron microscope. RESULTS: In the treated group, the majority of expanded muscles showed a normal striation pattern, whereas a few fibers showed mild disorganization of the myo-filaments in the sarcomeres, which appeared overstretched (average 2.37 µm). CONCLUSIONS: This evidence could demonstrate a greater capacity of muscle recovery after treatment by CO2 expansion.

Cetuximab ± chemotherapy enhances dendritic cell-mediated phagocytosis of colon cancer cells and ignites a highly efficient colon cancer antigen-specific cytotoxic T-cell response in vitro.

Cetuximab is a human/mouse chimeric IgG1 monoclonal antibody (mAb) to epidermal growth factor receptor, approved for colorectal carcinoma treatment in combination with chemotherapy. The immune-mediated effects elicited by its human fraction of crystallization moiety might critically contribute to the overall anti-tumor effectiveness of the antibody. We therefore investigated cetuximab ability to promote colon cancer cell opsonization and phagocytosis by human dendritic cells (DCs) that are subsequently engaged in antigen-cross presentation to cytotoxic T-lymphocyte (CTL) precursors. Human colon cancer cell lines were evaluated for susceptibility to DC-mediated phagocytosis before and after treatment with chemotherapy ± cetuximab in vitro. Human DCs loaded with control or drug-treated cetuximab-coated colon cancer cells were used to in vitro generate cytotoxic T cell clones from peripheral blood mononuclear cells of human leucocyte antigen-A(*)02.01(+) donors. T-cell cultures were characterized for immune-phenotype and tumor-antigen specific CTL activity. The results confirmed that treatment of tumor cells with irinotecan + L-folinate + 5-flurouracil (ILF) or with gemcitabine + ILF increased tumor antigen expression. Moreover, malignant cells exposed to chemotherapy and cetuximab were highly susceptible to phagocytosis by human DCs and were able to promote their activation. The consequent DC-mediated cross-priming of antigens derived from mAb-covered/drug-treated cancer cells elicited a robust CTL anti-tumor response. On the basis of our data, we suggest a possible involvement of CTL-dependent immunity in cetuximab anti-cancer effects.

A new schedule of fotemustine in temozolomide-pretreated patients with relapsing glioblastoma.

In the present study we investigated the feasibility and effectiveness of a new biweekly schedule of fotemustine (FTM) in patients with recurrent glioblastoma, after at least one previous treatment. The primary endpoint was progression-free survival at 6 months; secondary objectives were clinical response, overall survival, disease-free survival, and toxicity. Forty patients (median age 52.8 years; median Karnofsky Performance Status at progression 90) underwent second-line chemotherapy with FTM. Selected patients were previously treated with a standard radiotherapy course with concomitant temozolomide (TMZ). After tumor relapse or progression proven by magnetic resonance imaging (MRI), all patients underwent chemotherapy with FTM, given intravenously at dose of 80 mg/m(2) every 2 weeks for five consecutive administrations (induction phase), and then every 4 weeks at 80 [DOSAGE ERROR CORRECTED] mg/m(2) as maintenance. A total of 329 infusions were administered; the median number of cycles administered was 8. All patients completed the induction phase, and 29 patients received at least one maintenance infusion. Response to treatment was assessed using MacDonald criteria. One complete response [2.5%, 95% confidence interval (CI): 0-10%], 9 partial responses (22.5%, 95% CI: 15-37%), and 16 stable diseases (40%, 95% CI: 32-51%) were observed. Median time to progression was 6.7 months (95% CI: 3.9-9.1 months). Progression-free survival at 6 months was 61%. Median survival from beginning of FTM chemotherapy was 11.1 months. The schedule was generally well tolerated; the main toxicities were hematologic (grade 3 thrombocytopenia in two cases). To the best of our knowledge, this is the first report specifically dealing with the use of a biweekly induction schedule of FTM. The study demonstrates that FTM has therapeutic efficacy as single-drug second-line chemotherapy with a favorable safety profile.

Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.

BACKGROUND: Primary ciliary dyskinesia (PCD) is characterised by recurrent infections of the upper respiratory airways (nose, bronchi, and frontal sinuses) and randomisation of left-right body asymmetry. To date, PCD is mainly described with autosomal recessive inheritance and mutations have been found in five genes: the dynein arm protein subunits DNAI1, DNAH5 and DNAH11, the kinase TXNDC3, and the X-linked retinitis pigmentosa GTPase regulator RPGR. METHODS: We screened 89 unrelated individuals with PCD for mutations in the coding and splice site regions of the gene DNAH5 by denaturing high performance liquid chromatography (DHPLC) and sequencing. Patients were mainly of European origin and were recruited without any phenotypic preselection. RESULTS: We identified 18 novel (nonsense, splicing, small deletion and missense) and six previously described mutations. Interestingly, these DNAH5 mutations were mainly associated with outer + inner dyneins arm ultrastructural defects (50%). CONCLUSION: Overall, mutations on both alleles of DNAH5 were identified in 15% of our clinically heterogeneous cohort of patients. Although genetic alterations remain to be identified in most patients, DNAH5 is to date the main PCD gene.

Increased lung surfactant phosphatidylcholine in patients affected by lysosomal storage diseases.

Sandhoff disease, Gaucher disease type I and sialidosis type I are lysosomal storage disorders caused, respectively, by deficiency of activity of beta-hexosaminidase (storage of GM(2) and GA(2) ganglioside), glucosylceramidase (storage of glucosylceramide) and alpha-neuraminidase (storage of glucopeptides and/or oligosaccharides). Progressive clinical systemic and neurological dysfunctions are observed. In these pathologies, respiratory infections often lead to death. Elevation of the lung surfactant phosphatidylcholine (PC) has previously been reported in the Hexb mouse, a model of Sandhoff disease. We evaluated phospholipids in the lung surfactant of patients affected by the described lysosomal diseases, observing a statistically significant increase of total lipid phosphate in the patients as compared with controls. Moreover, higher levels of PC in patients affected by sialidosis (3.6-fold) and Gaucher (4-fold) disease, and of PC (4.15-fold) and phosphatidylethanolamine (2.3-fold) in a patient affected by Sandhoff disease were noted. The latter confirms the previous results in the Hexb mouse. We suggest that changes in phospholipid metabolism can be common in different lysosomal storage disorders and can increase the susceptibility to respiratory infections, usually present in these disorders.

[Disinfection efficiency of peracetic acid, alone and in combination with hypochlorite, against Mycobacterium avium in drinking water]. / Efficacia disinfettante dell'acido peracetico (PAA), da solo o in combinazione con il cloro, nei confronti di Mycobacterium avium in acqua destinata al consumo umano.

Peracetic acid (PAA) is a disinfectant with a wide spectrum of antimicrobial activity, but little is known about the feasibility of using it in the field of drinking water treatment. The aim of this study has been assess disinfectant efficacy of PAA, alone or in combination with hypochlorite, against M. avium in drinking water M. avium is a common opportunistic pathogen in immunocompromised subjects that is able to survive and grow in drinking water distribution systems. In this study PAA did not show appreciable activity against the greater number of tested strains (16/21) up to 5 ppm of PAA, a weak activity was seen on 4 strains, while a significant reduction in viable cells (about 50%) was seen only on 1 strain after 48 h of treatment with 5 ppm of PAA. We also evidenced that M. avium was unaffected by chlorine concentration usually present in drinking water distribution system. Finally, the combination of PAA and sodium hypochlorite did not promote enhanced antimicrobial efficacy respect to the single disinfectants. In conclusion, our result would indicate that PAA is an unlikely candidate for the disinfection of drinking water from M. avium and further strategies are required to eliminate M. avium from drinking water system.

Neurocutaneous syndrome with mental delay, autism, blockage in intracellular vescicular trafficking and melanosome defects.

We evaluated a 11-year-old male patient with mental delay, autism and brownish and whitish skin spots. The former resembled those of neurofibromatosis, the latter those of tuberous sclerosis. The patient received a complete clinical work-up to exclude neurofibromatosis, tuberous sclerosis, or any other known neurocutaneous disease, with biochemistry, chromosome analysis and analysis of skin specimens. Being all the other tests not significant, two main ultrastructural defects were observed. The first was a blockage in intracellular vescicular trafficking with sparing of the mitochondria; the second an aberrant presence of melanosomes in vacuoles of several cell lines and abnormal transfer of these organelles to keratinocytes. This patient presented with a unique clinical picture distinct from neurofibromatosis or tuberous sclerosis or any other known neurocutaneous disease. The ultrastructural abnormalities suggested a defect in cell trafficking involving several cell lines and compartments.

Routine assessment of hormonal receptor and her-2/neu status underscores the need for more therapeutic targets in Kenyan women with breast cancer.

OBJECTIVE: To report the expression of estrogen receptors, progesterone receptors and human epidermal growth factor receptor (Her-2/neu) in 158 Kenyan women with breast cancer and correlation with other prognostic indicators in this high-risk group. This study stressed the importance of routine assessment of the steroid receptors and Her-2/neu as a mode of therapeutic selection of patients for antihormonal or targeting monoclonal antibody (Herceptin) therapy, directed at the juxtamembrane domain of Her-2/neu protein in the developing countries such as Kenya. STUDY DESIGN: The study population consisted of 158 female patients with histologically confirmed breast carcinoma seen at the pathology department of The Nairobi Hospital. An immunohistochemical (IHC) study of ER, PR and Her-2/neu was conducted, followed by fluorescent in situ hybridization (FISH) validation for Her-2/neu gene amplification in cases initially scored as positive 2+ with IHC. Mastectomy samples registered at the pathology department of The Nairobi Hospital were used for this study. The study was approved by the institution's ethical review committee and informed consent obtainedfrom the concerned patients. RESULTS: In the studied cohort, positivity for both hormonal receptors and Her-2/neu was noted in 10 (6.33%) cases and negativity in 44 (27.85%) cases. Conversely, Her-2/neu negativity was noted in 32 (20.25%) cases with both steroid receptors positive and Her-2/neu positivity with both steroid receptors negative in 20 (12.66%) cases. Overall, no predictive factor was found in the Her-2/neu amplified 31/153 (20.26%) cases completely assessed with IHC and FISH. Grade III invasive ductal carcinomas, however, had a high prevalence of Her-2/neu overexpression. Association of both menopausal status (p = 0.044) and progesterone receptor status (p = 0.004) with high grade tumors were found to be statistically significant at 95% CI (p < 0.5). Consistent with other studies, Her-2/neu overexpression in this cohort was 20.26%. CONCLUSION: Her-2/neu positivity may activate ER expression through signaling kinases, and the combined target of mitogenic estrogen plus the monoclonal antibody therapy against Her-2/neu-overexpressing tumors expand chances of survival for patients in developing countries such as Kenya. The cost factor for these tests, selection for appropriate combined therapies and lack of awareness were noted as limiting factors for access to basic health care service and resulted in advanced tumor grade at time of patient presentation.

Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage.

Progressive lung infiltration is a major cause of death in Niemann-Pick disease type A and B (NPA, NPB) and in the recently defined type C2. In type C1 (NPC1), the main manifestations are neurological. We report a patient with a classic, neurological, late infantile form of NPC1 disease, carrying the mutation P474L and the variant I642M in the NPC1 gene, who suffered recurrent respiratory manifestations. Bronchoalveolar lavage of a lung segment due to deteriorating respiratory condition revealed many foamy macrophages and was followed by an improvement in symptoms. Pneumopathy may therefore be considered a feature of NPC1 disease for which a partial bronchoalveolar lavage could be a useful treatment.